A year earlier she'd given birth to my sister Cynthia, who also had albinism, a congenital disorder.
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He was born with tetra-amelia syndrome, a congenital disorder characterized by the absence of arms and legs.
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Albinism is a congenital disorder affecting between one in 5,000 and one in 15,000 people in sub-Saharan Africa.
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Albinism is a congenital disorder affecting about one in 20,000 people worldwide but is more common in sub-Saharan Africa.
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When Ms. Black learned that her son had Tay-Sachs disease, a fatal congenital disorder, she and her husband decided to have another child.
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And then, I can remember him doing an impression, behind a podium, of a reporter for The New York Times who has a congenital disorder.
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Other animals are white because they're albinos — they have a congenital disorder that inhibits the formation of color in the animal's skin, hair, scales, and eyes.
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Bentley was born with a rare congenital disorder called encephalocele, in which a sac-like protrusion of the brain, covered by thin membranes, sits outside the skull.
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Zephan Cantu of Indiana has cerebral palsy, a rare congenital disorder that affects muscle tone and posture, often causing rigid or floppy limbs and difficulty walking, according to the Mayo Clinic.
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To make matters worse, the shelter later discovered Petey likely had cerebellar hypoplasia, a congenital disorder which can cause tremors and lack of coordination (watch his wobbly movements in the video below).
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Angela Peters, who has cerebral palsy – a congenital disorder that can cause involuntary movements or tremors of arms, hands, legs and feet – was out shopping at the Walmart Supercenter in Burton, Mich.
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She went on to become a lawyer in Canada and, in 2015, the United Nations' first expert on albinism, a congenital disorder affecting up to one in 15,000 people in sub-Saharan Africa.
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In her second now-deleted Instagram Story (seen by Daily Mail), Bieber screenshotted a Wikipedia page for the congenital disorder known as ectrodactyly, which she says "causes my pinky fingers to look the way they do."
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Albinism is a congenital disorder affecting about one in 20,000 people worldwide who lack pigment in their skin, hair and eyes, but it is more common in sub-Saharan Africa and affects about one Tanzanian in 1,400.
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Love, who suffers from the congenital disorder that affects movement, muscle tone, or posture, decided she would try to walk on her own without a walker or her braces — and luckily, Johnson was recording the successful attempt.
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Ruby was eventually diagnosed with a form of epilepsy – a disorder in which nerve cell activity in the brain is disturbed, causing seizures – and cerebral palsy; a congenital disorder with symptoms of exaggerated reflexes, floppy or rigid limbs, and involuntary motions.
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The process of transplanting a uterus for these women and utilizing a deceased donor's uterus offers new options for women like the 2628-year-old recipient who had the rare congenital disorder of Mayer-Rokitansky-Kuster-Hauser syndrome, or uterine absence.
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There is "no fundamental difference" between a congenital disorder that produces high testosterone levels and a genetic mutation that produces elevated hemoglobin levels, according to a recent commentary, "The Olympic Games and Athletic Sex Assignment," in The Journal of the American Medical Association.
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SUVA (Thomson Reuters Foundation) - Taunted for their pale skin and abandoned by their families, the plight of Fijians with albinism needs to be addressed with the Pacific region having one of the highest rates of the congenital disorder globally, a United Nations expert said on Thursday.
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In a case report published in the Lancet in December, researchers at the University of São Paulo described how they removed a uterus from a 212-year-old woman who had died from a stroke and transplanted it into a 32-year-old with a rare congenital disorder that left her without a uterus.
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Mutations in PGM3 are associated to congenital disorder of glycosylation.
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Mutations in this gene are associated with congenital disorder of glycosylation.
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Microcheilia is a congenital disorder where one's lips are unusually small.
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In teratology, a malformation or congenital disorder involving a raphe, such as spina bifida, is known as a dysraphism.
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Bangstad syndrome is a severe, inherited congenital disorder associated with abnormalities of the cell membrane. It was characterized in 1989.
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Schmitt Gillenwater Kelly syndrome is a rare autosomal dominant congenital disorder consisting of radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema.
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Langer mesomelic dysplasia (LMD) is a rare congenital disorder characterized by an altered bone formation that causes a severe short and disproportionate stature.
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Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair- mental deficit syndrome, is an autosomal recessive congenital disorder affecting the integumentary system.
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Dolichol kinase deficiency is a cutaneous condition caused by a mutation in the dolichol kinase gene. It is also known as Congenital disorder of glycosylation 1m.
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Hanhart syndrome (also known as Aglossia adactylia; Hypoglossia-hypodactylia syndrome; Peromelia with micrognathia) is a congenital disorder that causes an undeveloped tongue and malformed extremities and fingers.
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GDP-fucose transporter 1 is a protein that in humans is encoded by the SLC35C1 gene. Defects can be associated with Congenital disorder of glycosylation type IIc.
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Antley–Bixler syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.
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Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin.
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A persistent cloaca is a symptom of a complex anorectal congenital disorder, in which the rectum, vagina, and urinary tract meet and fuse, creating a cloaca, a single common channel.
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Angel Wanjiru Ngugi (born 2003) is a Kenyan musician, born with a congenital disorder called hydrocephalus. On 16 December 2019, she received the Founders Award at MTM Choice Awards in the United Kingdom.
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Stimmler syndrome is a rare autosomal recessive congenital disorder first described by Stimmler et al. in 1970. It is characterized by dwarfism, diabetes, a small head, and high levels of alanine in the urine.
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Pituitary stalk interruption syndrome (PSIS) is a congenital disorder characterised by the triad of an absent or exceedingly thin pituitary stalk, an ectopic or absent posterior pituitary and/or absent or hypoplastic anterior pituitary.
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A congenital disorder is diastematomyelia in which part of the spinal cord is split usually at the level of the upper lumbar vertebrae. Sometimes the split can be along the length of the spinal cord.
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Jonathan Hall was born in Doncaster, South Yorkshire on 13 March 1982 with spina bifida, a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. He currently lives in Chesterfield, Derbyshire.
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Mutations in the ST3GAL3 gene was recently shown to be the cause of autosomal recessive mental retardation 12. Since the mutations disrupt a glycosylation pathway, this disorder may be considered a congenital disorder of glycosylation.
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Montjane was born in Seshego on the periphery of Polokwane, Limpopo with a congenital disorder which affected both of her hands and a foot with the other foot being amputated by the age of 12.
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Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, and syndactyly. It was first characterized in 1909, and is named for George Alfred Carpenter.
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Zadik–Barak–Levin syndrome (ZBLS) is a congenital disorder in humans. Presenting conditions include primary hypothyroidism, cleft palate, hypodontia, and ectodermal dysplasia. It is the result of an embryonic defect in the mesodermal-ectodermal midline development.
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Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate.update 2016 It was characterized in 1971; eight cases had been identified as of 1995.
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Pollock was born on 11 May 1977 in Liverpool, England, with spina bifida, a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. He currently lives in Wigan, Greater Manchester, in north west England.
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Renal–hepatic–pancreatic dysplasia is an autosomal recessive congenital disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis. It is usually fatal soon after birth. An association with NPHP3 has been described. It was characterized in 1959.
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This protein is an integral membrane protein of the endoplasmic reticulum. The congenital disorder of glycosylation type Ij is caused by mutation in the gene encoding this enzyme. Alternatively spliced transcript variants encoding different isoforms have been identified.
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Orofaciodigital syndrome 1 (OFD1), also called Papillon-League and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.
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The term is from Ancient Greek φώκη phōkē, "seal (animal)" + -o- interfix + μέλος melos, "limb" + English suffix -ia). Phocomelia is an extremely rare congenital disorder involving malformation of the limbs (dysmelia). Étienne Geoffroy Saint-Hilaire coined the term in 1836.
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Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair growth and dental development. There are fewer than 200 people with the syndrome worldwide. An organization supporting people with Hallermann–Streiff syndrome is the Germany-based "Schattenkinder e.V".
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Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism"), is a rare autosomal recessive congenital disorder. It causes severe growth failure along with abnormalities of the heart, muscle, liver, brain and eye. TRIM37 is responsible for various cellular functions including developmental patterning.
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Slide tracheoplasty is said to be the best option in treating tracheal stenosis. Mounier-Kuhn syndrome is a rare congenital disorder of an abnormally enlarged trachea, characterised by absent elastic fibres, smooth muscle thinning, and a tendency to get recurrent respiratory tract infections.
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Choanal atresia is a congenital disorder where the back of the nasal passage (choana) is blocked, usually by abnormal bony or soft tissue (membranous) due to failed recanalization of the nasal fossae during fetal development. It was first described by Roederer in 1755.
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Shwachman–Diamond syndrome (SDS), or Shwachman–Bodian–Diamond syndrome, is a rare congenital disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal abnormalities and short stature. After cystic fibrosis (CF), it is the second most common cause of exocrine pancreatic insufficiency in children.
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A congenital lip pit or lip sinus is a congenital disorder characterized by the presence of pits and possibly associated fistulas in the lips. They are often hereditary, and may occur alone or in association with cleft lip and palate, termed Van der Woude syndrome.
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Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder. It is characterized by blepharophimosis, microcephaly, micrognathia, multiple joint contractures, arachnodactyly, camptodactyly, kyphoscoliosis and delayed motor development and is often associated with cystic dysplastic kidneys, dextrocardia, Dandy–Walker malformation and agenesis of corpus callosum.
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The male:female rate of this disorder is 1:4. The incidence is unknown, and there is no described racial predominance. Even though Madelung's Deformity is considered a congenital disorder, symptoms sometimes aren't seen until adulthood. In most cases, symptoms find their onset during midchildhood.
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Wanjiru was born in 2003, with a congenital disorder called hydrocephalus. Her mother is Anne Ngugi, a Kenyan BBC presenter. As a result of her condition, she has a bigger head than other people. Her condition exposes her to a lot of bullying, ridicule and health problems.
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Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth (hypertrichosis), fragile (atrophic) skin, eyelid deformities (ectropion), and an overly broad mouth (macrostomia). Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome, which is also associated with dominant mutations in TWIST2.
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Dermatopathia pigmentosa reticularis is a rare, autosomal dominant congenital disorder that is a form of ectodermal dysplasia. Dermatopathia pigmentosa reticularis is composed of the triad of generalized reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy.James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology.
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Nevus anemicus is a congenital disorder characterized by macules of varying size and shape that are paler than the surrounding skin and cannot be made red by trauma, cold, or heat.James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders.
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Tracheobronchomegaly is a very rare congenital disorder of the lung primarily characterized by an abnormal widening of the upper airways. The abnormally widened trachea and mainstem bronchi are associated with recurrent lower respiratory tract infection and copious purulent sputum production, eventually leading to bronchiectasis and other respiratory complications.
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It is most frequently caused by impact trauma, such as by a blow to the face. It can also be a congenital disorder, caused by compression of the nose during childbirth. Deviated septum is associated with genetic connective tissue disorders such as Marfan syndrome, Homocystinuria and Ehlers–Danlos syndrome.
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A rectovestibular fistula, also referred to simply as a vestibular fistula, is an anorectal congenital disorder where an abnormal connection (fistula) exists between the rectum and the vulval vestibule of the female genitalia. If the fistula occurs within the hymen, it is known as a rectovaginal fistula, a much rarer condition.
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Spasticity of the lower limbs, causing the muscles to stiffen or tighten, preventing normal fluid movement. Aphasia, which is when someone loses the ability to understand or express speech, due to brain damage. Seizures, an abrupt, uncontrolled disturbance in the brain. Lastly, agenesis of the corpus callosum, a rare congenital disorder.
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The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with specific granule deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined.
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RBM10 influences the expression of many genes, participating in various cellular processes and pathways such as cell proliferation and apoptosis. Its mutations are associated with various human diseases such as TARP syndrome, an X-linked congenital disorder in males resulting in pre‐ or postnatal lethality, and various cancers in adults.
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Umbilical-urachal sinus is a congenital disorder of the urinary bladder caused by failure of obliteration of proximal or distal part of the allantois, and the presentation of this anomaly is more common in children and rarer in adults. It is thought have been first described by Cabriolus in 1550.
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The biosynthesis of lipid-linked oligosaccharides is highly conserved among eukaryotes and is catalyzed by 14 glycosyltransferases in an ordered stepwise manner. The Alg1 mannosyltransferase I (MT I) catalyzes the first mannosylation step in this process. Clinically, the deficiency of ALG1 in humans results in ALG1-CDG, a congenital disorder of glycosylation.
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Parkes Weber syndrome (PWS) is a congenital disorder of the vascular system. It is an extremely rare condition, and its exact prevalence is unknown. It is named after British dermatologist Frederick Parkes Weber, who first described the syndrome in 1907. In the body, the vascular system consists of arteries, veins and capillaries.
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Weissenbacher–Zweymuller syndrome (WZS), also called Pierre-Robin syndrome with fetal chondrodysplasia, is an autosomal recessive congenital disorder, linked to mutations (955 gly -> glu) in the COL11A2 gene (located on chromosomal position 6p21.3), which codes for the α2 strand of collagen type XI. It is a collagenopathy, types II and XI disorder.
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The congenital disorder, spina bifida, occurs as a result of a defective embryonic neural tube, characterised by the incomplete closure of vertebral arch or of the incomplete closure of the surface of the vertebral canal.Anderson, D.M. (2000). Dorland’s illustrated medical dictionary (29th edition). Philadelphia/London/Toronto/Montreal/Sydney/Tokyo: W.B. Saunders Company.
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Larsen syndrome (LS) is a congenital disorder discovered in 1950 by Larsen and associates when they observed dislocation of the large joints and face anomalies in six of their patients.Mitra, N., Kannan, N., Kumar, V.S., Kavita, G. "Larsen Syndrome: A Case Report." Journal of Nepal Paediatric Society. 32.1 (2012): 85-87. Print.
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In 1925 he applied to join the Royal Navy. During the selection board process it was discovered he was colour blind. This congenital disorder would normally have ended his career. Fortunately the chief medical officer was a patient man and coached him to differentiate between what he was seeing and what was a congenital illusion.
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On the whole, both KDM6A and KDM6B possess tumor-suppressive characteristics. KDM6A knockdowns in fibroblasts lead to an immediate increase in fibroblast population. KDM6B expressed in fibroblasts induces oncogenes of the RAS_RAF pathway. Deletions and point mutations of KDM6A have been identified as one cause of Kabuki Syndrome, a congenital disorder resulting in intellectual disability.
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An imperforate lacrimal punctum is a congenital disorder of dogs involving the lack of an opening to the nasolacrimal duct (tear duct) in the conjunctiva. Dogs normally have two lacrimal puncta, the superior and inferior. This condition can affect either or both. Symptoms include excessive tearing and tear staining of the hair around the eye.
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For medical education, Stephenson traveled to Scotland and joined the University of Edinburgh Medical School in 1817. While he was attending the Medical School, he met with his childhood friend, Andrew Fernando Holmes. Holmes was also studying medicine at Edinburgh. He was born with congenital disorder of the soft palate; he had difficulty in speech.
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12: 162. It is co- named with another English physician, Frederick Parkes Weber (1863-1962). This disease is a congenital disorder which affects the brain, eyes and skin. The disease is characterized by a port-wine nevi on the scalp along the distribution of the trigeminal nerve, combined with glaucoma and intracranial vascular abnormalities.
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Phosphomannomutase 2 catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate. Mannose 1-phosphate is a precursor to GDP- mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in the gene have been shown to cause defects in the protein glycosylation pathway which manifest as congenital disorder of glycosylation type Ia.
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Researchers are unsure of the cause of pectus excavatum. Some researchers take the stance that it is a congenital disorder (birth defect) (that is, not genetic) like cleft lip. Others assume that there is some genetic component. A small sample size test found in least some cases, 37% of individuals have an affected first degree family member.
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Polyorchidism is the incidence of more than two testicles. It is a very rare congenital disorder, with fewer than 200 cases reported in medical literature and six cases (two horses, two dogs and two cats) in veterinary literature. Polyorchidism is generally diagnosed via an ultrasound examination of the testicles. However, the diagnosis of polyorchidism should include histological confirmation.
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Macrodystrophia lipomatosa (ML) is a rare congenital disorder characterized by localised overgrowth of a part of an extremity or less commonly a whole extremity. The involvement of more than one extremity is even more uncommon. There is a slight predilection for the lower limb affection namely the foot. The overgrown region consists predominantly of adipose tissue.
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Fountain syndrome is an autosomal recessive congenital disorder characterized by mental retardation, deafness, skeletal abnormalities and a coarse face with full lips. The abnormal swelling of the cheeks and lips are due to the excessive accumulation of body fluids under the skin. The deafness is due to malformation of the cochlea structure within the inner ear.
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Tetra-amelia syndrome (tetra- + amelia), also called autosomal recessive tetraamelia, is an extremely rare autosomal recessive congenital disorder characterized by the absence of all four limbs. Other areas of the body are also affected by malformations, such as the face, skull, reproductive organs, anus and pelvis. The disorder is caused by mutations in the WNT3 gene.
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Additionally, scoliosis and microcephaly have also been identified. In addition to severe immunodeficiency, motor and neurologic impairment are evident from early life. Oral motor deficits, dysarthria, developmental delay, ataxia, myoclonus, seizure and mild sensory loss have all been identified. These distinctive neurologic features are suggestive of hypomyelination, as they resemble features of other congenital disorder of glycosylation (CDGs).
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This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii).
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Bassen-Kornzweig disease, also called Bassen-Kornzweig Syndrome, is a rare congenital disorder in which the body fails to produce chylomicrons, a low density lipoprotein (LDL) and very low density lipoprotein (VLDL). Individuals with this condition are unable to properly digest fats. Symptoms include ataxia, peripheral neuropathy and other forms of nerve dysfunction. Treatment includes vitamin E.Mondofacto Medical dictionary.
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Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus platinus, autosomal dominant osteosclerosis, autosomal dominant endosteal hyperostosis or Worth disease, is a rare autosomal dominant congenital disorder that is caused by a mutation in the LRP5 gene. It is characterized by increased bone density and benign bony structures on the palate.
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In the congenital disorder cleidocranial dysostosis, the anterior fontanelle never closes to form the bregma. The bregma is often used as a reference point for stereotactic surgery of the brain. Also, examination of an infant includes palpating the anterior fontanelle. A sunken fontanelle indicates dehydration, whereas a very tense or bulging anterior fontanelle indicates raised intracranial pressure.
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Bronchial atresia is a rare congenital disorder that can have a varied appearance. A bronchial atresia is a defect in the development of the bronchi, affecting one or more bronchi – usually segmental bronchi and sometimes lobar. The defect takes the form of a blind-ended bronchus. The surrounding tissue secretes mucus normally but builds up and becomes distended.
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Fluorescein angiography can reveal arteriovenous malformations. Bonnet–Dechaume–Blanc syndrome results from arteriovenous malformations. The exact cause of this disorder is unknown, and no specific genetic abnormality has been identified. The syndrome is a congenital disorder that begins to develop around the seventh week of gestation when the maturation of retinal mesenchymal cells do not grow properly.
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Nonsurgical treatments include embolization, radiation therapy, and continued observation. When pursuing treatment, it is important to consider the size of the malformations, their locations, and neurological involvement. Because it is a congenital disorder, there are no preventative steps to take aside from regular follow-ups with a doctor to monitor symptoms so that future complications are avoided.
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Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. The deletion may range from 5 million to 16 million deleted DNA base pairs.
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Triple-A syndrome or AAA syndrome, is a rare autosomal recessive congenital disorder. In most cases, there is no family history of it. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978, since then just over 100 cases have been reported. The syndrome involves achalasia, addisonianism (adrenal insufficiency of primary type), and alacrima (insufficiency of tears).
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Crandall syndrome is a very rare congenital disorder characterised by progressive sensorineural hearing loss, hair loss associated with pili torti, and hypogonadism demonstrated through low levels of luteinising hormone and growth hormone. It is thought to be an autosomal recessive disorder closely related to Björnstad syndrome which presents similarly but without hypogonadism. The condition was first reported by B. F. Crandall in 1973.
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The band has received praise for their debut single "Insufficient Fare" and their energetic live performances. According to lead singer Honor Titus, the name Cerebral Ballzy came from a friend who dropped a slice of pizza on a train track and picked it up. Honor said "That was ballsy" and his friend replied "Cerebral Ballsy!", a play on the congenital disorder cerebral palsy.
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There are two key forms of nystagmus: pathological and physiological, with variations within each type. Nystagmus may be caused by congenital disorder or sleep deprivation, acquired or central nervous system disorders, toxicity, pharmaceutical drugs, alcohol, or rotational movement. Previously considered untreatable, in recent years several drugs have been identified for treatment of nystagmus. Nystagmus is also occasionally associated with vertigo.
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Nakajo syndrome, also called nodular erythema with digital changes, is a rare autosomal recessive congenital disorder first reported in 1939 by A. Nakajo in the offspring of consanguineous (blood relative) parents. The syndrome can be characterized by erythema (reddened skin), loss of body fat in the upper part of the body, and disproportionately large eyes, ears, nose, lips, and fingers.
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Absence of the great cerebral vein is a congenital disorder. The deep cerebral veins of the brain normally drain through the great cerebral vein. In its absence, the veins from the diencephalon and the basal ganglia drain laterally into the transverse sinus instead of conjoining in the midline through the Galenic drainage system. Absence of the great cerebral vein is quite rare.
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Myelokathexis is a congenital disorder of the white blood cells that causes severe, chronic leukopenia (a reduction of circulating white blood cells) and neutropenia (a reduction of neutrophil granulocytes). The disorder is believed to be inherited in an autosomal dominant manner. Myelokathexis refers to retention (kathexis) of neutrophils in the bone marrow (myelo). The disorder shows prominent neutrophil morphologic abnormalities.
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An imperforate hymen is a congenital disorder where a hymen without an opening completely obstructs the vagina. It is caused by a failure of the hymen to perforate during fetal development. It is most often diagnosed in adolescent girls when menstrual blood accumulates in the vagina and sometimes also in the uterus. It is treated by surgical incision of the hymen.
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Spina bifida is a congenital disorder in which there is a defective closure of the vertebral arch. Sometimes the spinal meninges and also the spinal cord can protrude through this, and this is called Spina bifida cystica. Where the condition does not involve this protrusion it is known as Spina bifida occulta. Sometimes all of the vertebral arches may remain incomplete.
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An acquired brain injury (ABI) is brain damage caused by events after birth, rather than as part of a genetic or congenital disorder. It usually affects cognitive, physical, emotional, social or independent functioning. ABIs can result from either a traumatic brain injury or a non-traumatic injury such as stroke, infection or substance abuse. Most definitions of ABI exclude neurodegenerative disorders.
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Simpson–Golabi–Behmel syndrome (SGBS), is a rare inherited congenital disorder that can cause craniofacial, skeletal, cardiac, and renal abnormalities. The syndrome is inherited in an X-linked recessive fashion, where males express the phenotype and females usually do not. Females that possess one copy of the mutation are considered to be carriers of the syndrome and may express varying degrees of the phenotype.
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Hemimegalencephaly (HME), or unilateral megalencephaly, is a rare congenital disorder affecting all or a part of a cerebral hemisphere. It causes severe seizures, which are often frequent and hard to control. A minority might have seizure control with medicines, but most will need removal or disconnection of the affected hemisphere as the best chance. Uncontrolled, they often cause progressive intellectual disability and brain damage and stop development.
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Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies. Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician, a professor of pediatrics and genetics at the University of Iowa who researched this disorder.
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Dyskeratosis congenita (DKC),also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, but these components do not always occur. DKC is characterized by short telomeres. Some of the manifestations resemble premature ageing (similar to progeria).
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Johanson–Blizzard syndrome is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia. The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease.
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Cyclopia is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities. Its incidence is 1 in 16,000 in born animals and 1 in 200 in miscarried fetuses.Taber's Cyclopedic Medical Dictionary, Leroi, Armand Marie Mutants: On Genetic Variety and the Human Body, p.73.
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Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often (but not always) present on the abdomen of those with the disorder.
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Urinary tract obstruction as a congenital disorder results in oligohydramnios which in turn can lead to the Potter sequence of atypical physical appearance. Pulmonary hypoplasia is by far the main cause of death in the early neonatal period for children with congenital lower urinary tract obstruction. Fetal surgery of congenital lower urinary tract obstruction seems to improve survival, according to a randomized yet small study.
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A persistent thyroglossal duct is the most common clinically significant congenital disorder of the thyroid gland. A persistent sinus tract may remain as a vestigial remnant of the tubular development of the thyroid gland. Parts of this tube may be obliterated, leaving small segments to form thyroglossal cysts. Preterm neonates are at risk of hypothyroidism as their thyroid glands are insufficiently developed to meet their postnatal needs.
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Yim–Ebbin syndrome is a congenital disorder characterized by the absence of arms, a cleft lip and palate, hydrocephalus, and an iris coloboma. It was first described by Yim and Ebbin in 1982, and later by Thomas and Donnai in 1994. In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome.
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The causes of Mullerian anomalies are not well-understood. The aetiology of this congenital disease may be multifactorial, with genetics, socioeconomic factors and geographic factors playing a role in dysfunctional Mullerian duct development. Mullerian anomalies likely occur early in development, as the congenital disorder often occurs in association with renal and anorectal disorders. Typically, women with Mullerian abnormalities have a normal female karyotype (46, XX).
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Persistent Müllerian Duct Syndrome (PMDS), also known as Persistent Oviduct Syndrome, is a congenital disorder related to male sexual development. PMDS usually affects phenotypically normal male individuals with the karyotype (46, XY) and is a form of pseudohermaphroditism. PMDS has various causes to do with AMH or receptors abnormalities. For example, AMH has failed to synthesis, failed to release or was secreted at the wrong time.
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Pál Harrer was born into a poor farming family of Swabian origin as the son of Pál Harrer Sr. and Katalin Thaller. His mother tongue was the German language. Due to a congenital disorder affecting his left hand, Harrer chose an administrative career after finishing his secondary studies in Esztergom and Buda. Because of his family's financial situation, he was unable to start his studies in higher education.
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Probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase is an enzyme that in humans is encoded by the ALG8 gene. This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih).
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Childhood (or paediatric) acquired brain injury (ABI) is the term given to any injury to the brain that occurs during childhood but after birth and the immediate neonatal period. It excludes injuries sustained as a result of genetic or congenital disorder. It also excludes those resulting from birth traumas such as hypoxia or conditions such as foetal alcohol syndrome. It encompasses both traumatic and non-traumatic (or atraumatic) injuries.
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A somewhat rare congenital disorder of the sternum sometimes referred to as an anatomical variation is a sternal foramen, a single round hole in the sternum that is present from birth and usually is off-centered to the right or left, commonly forming in the 2nd, 3rd, and 4th segments of the breastbone body. Congenital sternal foramina can often be mistaken for bullet holes.Byers, S.N. (2008). Introduction to Forensic Anthropology.
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Prior to licensing, Tuigpaard stallions must undergo a thorough vet check. Any horse with defects of the genitalia or bite, sub-par semen analysis, or any evidence of a congenital disorder or defect is not permitted to breed. A horse which has had surgery to correct a congenital abnormality is likewise culled. Furthermore, the stallions and elite performance mares must undergo a thorough radiographic exam of their joints.
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Albinism is a congenital disorder characterized in humans by the complete or partial absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers. In rare cases such as Chédiak–Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules.
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EZH2 inhibits genes responsible for suppressing tumor development, and blocking EZH2 activity may slow tumor growth. EZH2 has been targeted for inhibition because it is upregulated in multiple cancers including, but not limited to, breast, prostate, melanoma, and bladder cancer. Mutations in the EZH2 gene are also associated with Weaver syndrome, a rare congenital disorder, and EZH2 is involved in causing neurodegenerative symptoms in the nervous system disorder, ataxia telangiectasia.
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GATA3 haploinsufficiency (i.e. loss of one or the two inherited GATA3 genes) results in a congenital disorder termed the Barakat syndrome. Current clinical and laboratory research is focusing on determining the benefits of directly or indirectly blocking the action of GATA3 in inflammatory and allergic diseases such as asthma. It is also proposed to be a clinically important marker for various types of cancer, particularly those of the breast.
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The familial glucocorticoid deficiency occurs as a result of poor adrenal response to ACTH stimulation which leads to glucocorticoid deficiency. The mutations in the MRAP gene caused the congenital disorder familial glucocorticoid deficiency type 2 (FGD-2). FGD-2 is an autosomal recessive disease with early childhood onset of recurrent infections, hypoglycaemia, skin hyperpigmentation, and failure to thrive due to low glucocorticoids levels. If left untreated, it could be fatal.
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A chick with two beaks and three eyes Diprosopus (Greek , "two-faced", from , ', "two" and , ' [neuter], "face", "person"; with Latin ending), also known as craniofacial duplication (cranio- from Greek , "skull", the other parts Latin), is an extremely rare congenital disorder whereby parts (accessories) or all of the face are duplicated on the head.Definition of diprosopus at MedicineNet. Accessed 8 January 2006.'Miracle baby' is feted in India at BBC News.
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Waardenburg Syndrome Type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It results in common Waardenburg syndrome symptoms such as abnormal hair and skin pigmentation and heterochromia, but also present with symptoms of Hirschsprung’s disease. Symptoms include abdominal pain and bowel obstruction. Waardenburg Syndrome Type 4A is the rarest among the types, appearing only once in about every 1,000,000 individuals.
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Although hematometra can often be diagnosed based purely on the patient's history of amenorrhea and cyclic abdominal pain, as well as a palpable pelvic mass on examination, the diagnosis can be confirmed by ultrasound, which will show blood pooled in the uterus and an enlargement of the uterine cavity. A pyelogram or laparoscopy may assist in diagnosing any congenital disorder that is suspected to be the underlying cause of the hematometra.
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Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect names. It is a malformation due to intrauterine bands or rings that give deep grooves in, most commonly, distal extremities like fingers and toes. In rare cases the constriction ring can form around other parts of the fetus and cause amputation or even intrauterine death (see Types and Classification).
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It has been suggested that missense mutations in the DHDDS gene are responsible for certain variants of retinitis pigmentosa. Since it is involved in the early steps of dolichol synthesis, vital e.g. for correct N-glycosylation, a disease caused by mutations in DHDDS should be considered a congenital disorder of glycosylation (and named DHDDS-CDG according to the novel nomenclature of CDGs). Many CDG subtypes present with retinitis pigmentosa as a major feature.
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Shaun Ross (born May 10, 1991) is an American model, recording artist, and actor. He is known for his work in the fashion world as the first professional male model with the congenital disorder albinism. Ross has worked with various fashion designers, magazines and campaigns, including Givenchy, Alexander McQueen, Vogue, GQ, Nylon and others. In 2018, he collaborated with designer Nina Athanasiou for the "In My Skin" clothing line to bring awareness to albinism.
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Kabuki syndrome (also previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic facial appearance. It is quite rare, affecting roughly one in 32,000 births. It was first identified and described in 1981 by two Japanese groups, led by scientists Norio Niikawa and Yoshikazu Kuroki.
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Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase is an enzyme that, in humans, is encoded by the ALG3 gene. This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol- P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation.
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Amputation is the removal of a limb by trauma, medical illness, or surgery. As a surgical measure, it is used to control pain or a disease process in the affected limb, such as malignancy or gangrene. In some cases, it is carried out on individuals as a preventive surgery for such problems. A special case is that of congenital amputation, a congenital disorder, where fetal limbs have been cut off by constrictive bands.
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KDSF mostly affects men, which makes sense for it to be an X-linked disease, caused by a mutation of the SAT1 gene. Elevated levels of RNA transcripts of SAT1 in the bloodstream have been associated with a higher risk of suicide. The SAT1 gene has implications with NLS-2 Neu-Laxova syndrome, type 2 (NLS). It is inherited as an autosomal recessive trait and is considered a rare lethal congenital disorder.
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Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a penetrant injury. Isolated aniridia is a congenital disorder which is not limited to a defect in iris development, but is a panocular condition with macular and optic nerve hypoplasia, cataract, and corneal changes. Vision may be severely compromised and the disorder is frequently associated with a number of ocular complications: nystagmus, amblyopia, buphthalmos, and cataract.
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Fibro-adipose vascular anomaly, also known as FAVA, is a type of vascular anomaly that is both rare and painful. FAVA is characterized by tough fibrofatty tissue taking over portions of muscle, most often contained within a single limb. FAVA also causes venous and/or lymphatic abnormalities. Though FAVA has only been recognized as a distinct vascular anomaly, separate from common venous malformations, within the past ten years, FAVA a distinct congenital disorder.
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Rudiger syndrome is a congenital disorder characterized by the association of severe growth retardation with abnormalities of the extremities, urogenital abnormalities and facial abnormalities. It has been described in a family where an affected brother and sister died as infants. Both autosomal recessive and autosomal dominant inheritance have been suggested with the disorder. The features ectrodactyly, ectodermal dysplasia and cleft palate have been described with Rudiger syndrome, giving it the rarely used designation "EEC syndrome".
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The Progeria Research Foundation (PRF) is a non-profit organization dedicated to developing treatments and, ultimately, a cure for progeria, a congenital disorder. The Foundation was established in 1999 by the family and friends of Sam Berns, a child with progeria, including Dr. Leslie Gordon and Dr. Scott Berns, his parents, and Audrey Gordon, his aunt.Moore, Keith. Old at Age 3: The Story of Zachary Moore Old At Age 3, 2007 , pp.
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Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial (or pharyngeal) arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects. In 1906, Eugène Apert, a French physician, described nine people sharing similar attributes and characteristics.
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Neurocutaneous melanosis is a congenital disorder characterized by the presence of congenital melanocytic nevi on the skin and melanocytic tumors in the leptomeninges of the central nervous system. These lesions may occur in the amygdala, cerebellum, cerebrum, pons and spinal cord of patients. Although typically asymptomatic, malignancy occurs in the form of leptomeningeal melanoma in over half of patients. Regardless of the presence of malignancy, patients with symptomatic neurocutaneous melanosis generally have a poor prognosis with few treatment options.
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The most common sites for spina bifida malformations are the lumbar and sacral areas. Another congenital disorder is that of caudal regression syndrome also known as sacral agenesis. This is characterised by an abnormal underdevelopment in the embryo (occurring by the seventh week) of the lower spine. Sometimes part of the coccyx is absent, or the lower vertebrae can be absent, or on occasion a small part of the spine is missing with no outward sign.
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Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane, one of the three meningeal layers that cover the brain and the spinal cord. Primary arachnoid cysts are a congenital disorder whereas secondary arachnoid cysts are the result of head injury or trauma. Most cases of primary cysts begin during infancy; however, onset may be delayed until adolescence.
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McFadden was born in Leningrad, then Soviet Union, on 21 April 1989. She was born with spina bifida, a congenital disorder that paralyzed her from the waist down. After her birth mother abandoned her in an orphanage that was too poor to afford a wheelchair for her, she walked on her hands for the first six years of her life. The doctors told her she was so sick that she had very little time to live.
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Cobb syndrome is a rare congenital disorder characterized by visible skin lesions with underlying spinal angiomas or arteriovenous malformations (AVMs). The skin lesions of Cobb syndrome typically are present as port wine stains or angiomas, but reports exist of angiokeratomas, angiolipomas, and lymphangioma circumscriptum. The intraspinal lesions may be angiomas or AVMs and occur at levels of the spinal cord corresponding to the affected skin dermatomes. They may in turn produce spinal cord dysfunction and weakness or paralysis.
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Kurt Harry Fearnley, (born 23 March 1981) is an Australian wheelchair racer, who has won gold medals at the Paralympic Games and 'crawled' the Kokoda Track. He has a congenital disorder called sacral agenesis which prevented fetal development of certain parts of his lower spine and all of his sacrum. In Paralympic events he is classified in the T54 classification. He focuses on long and middle-distance wheelchair races, and has also won medals in sprint relays.
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Zamzam–Sheriff–Phillips syndrome is a rare autosomal recessive congenital disorder. It is characterized by aniridia, ectopia lentis, abnormal upper incisors and intellectual disability.Birth Disorder Information Directory - Z Not a lot of research has been undertaken of this particular disease so thus far there is no known gene that affects this condition. However it has been hypothesised that the symptoms described are found at a particular gene, though intellectual disability is believed to be due to a different genetic cause.
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Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells that may develop on the brain or spinal cord. They are a congenital disorder, and in some cases may not show symptoms. However, if there is a large cyst, symptoms may include headache, seizures, ataxia (lack of muscle control), hemiparesis, and several others. Macrocephaly and ADHD are common among children, while presenile dementia, hydrocephalus (an abnormality of the dynamics of the cerebrospinal fluid), and urinary incontinence are symptoms for elderly patients (65 and older).
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Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or -with bilayered patellae, is an autosomal recessive congenital disorder affecting cartilage and bone development. The disorder has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees. Some affected individuals are born with an inward- and downward-turning foot (a clubfoot). An abnormality of the kneecap called a double-layered patella is also relatively common.
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Keppen–Lubinsky syndrome is an extremely rare congenital disorder. The minimal clinical criteria for the Keppen–Lubinsky syndrome are as follows: normal growth parameters at birth, postnatal growth failure, peculiar face with an aged appearance (large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth), skin tightly adherent to facial bones, generalized lipodystrophy, microcephaly, and development delay. Keppen- Lubinsky syndrome is caused by mutation in the inwardly rectifying K+ channels encoded by KCNJ6 gene.
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Freudenthal is known for his Nit Occlud device for treatment of an infant heart problem. The prototypes were first tested on sheep, and since then have been used successfully by Freudenthal on hundreds of children, and have been exported around the world. The device treats a congenital disorder in the heart known as a patent ductus arteriosus (PDA). This occurs when the ductus arteriosus blood vessel, which bypasses the lungs before a baby is born, fails to close up soon after birth.
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Melnick–Needles syndrome (MNS), also known as Melnick–Needles osteodysplasty, is an extremely rare congenital disorder that affects primarily bone development. Patients with Melnick–Needles syndrome have typical faces (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, s-like curvature of bones of legs, irregular constrictions in the ribs, and sclerosis of base of skull. In males, the disorder is nearly always lethal in infancy. Lifespan of female patients might not be affected.
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Cholesterol sulfate, or cholest-5-en-3β-ol sulfate, is an endogenous steroid and the C3β sulfate ester of cholesterol. It is formed from cholesterol by steroid sulfotransferases (SSTs) such as SULT2B1b (also known as cholesterol sulfotransferase) and is converted back into cholesterol by steroid sulfatase (STS). Accumulation of cholesterol sulfate in the skin is implicated in the pathophysiology of X-linked ichthyosis, a congenital disorder in which STS is non-functional and the body cannot convert cholesterol sulfate back into cholesterol.
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The University of Maryland's undergraduate history journal, created in 2000, is named Janus. Cats with the congenital disorder Diprosopus, which causes the face to be partly or completely duplicated on the head, are known as Janus cats. In 2020, the character Deceit from the series Sanders Sides, created by Thomas Sanders, in the episode "Putting Others First", revealed his name to be Janus. Janus particles are engineered micro- or nano-scopic particles possessing two distinct faces which have distinct physical or chemical properties.
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Waardenburg Syndrome Type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that results in abnormal development in the neural crest during early development. Type 1 results in early graying and white forelock and a notable distance between the eyes, noted as dystopia canthorum. Common symptoms of the disease also includes non-progressive hearing loss in majority of patients with Type 1. Patients can display complete or partial heterochromia and hypoplastic blue irides and congenital leukemia.
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XK aprosencephaly (also called Garcia-Lurie syndrome, aprosencephaly, and aprosencephaly-atelencephaly syndrome) is an extremely rare congenital disorder characterized by the absence of the embryonic forebrain. Because the prosencephalon gives way to the cerebral cortex, survival with aprosencephaly is not possible outside utero. The external symptoms are similar to holoprosencephaly, a related disorder, including a smaller than normal head (microcephaly), small eyeballs (microphthalmia), a small mouth (microstomia), anal atresia (no anus), and abnormalities of the external genitalia, radius, nostrils, and pharynx (throat).
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However, while XLA is a congenital disorder, with known genetic causes, CVID may occur in adulthood and its causes are not yet understood. In addition, to X-linked agammaglobulinemia a couple of autosomal recessive agammaglobulinemia gene mutations have been described including mutations in IGHM , IGLL1, CD79A/B , BLNK and deletion of the deletion of the terminal 14q32.33 chromosom. XLA was also historically mistaken as Severe Combined Immunodeficiency (SCID), a much more severe immune deficiency ("Bubble boys").A strain of laboratory mouse, XID, is used to study XLA.
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Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase is an enzyme that in humans is encoded by the ALG12 gene. This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig) characterized by abnormal N-glycosylation.
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Caudal duplication, (or caudal duplication syndrome) is a rare congenital disorder in which various structures of the caudal region, embryonic cloaca, and neural tube exhibit a spectrum of abnormalities such as duplication and malformations. The exact causes of the condition is unknown, though there are several theories implicating abnormal embryological development as a cause for the condition. Diagnosis is often made during prenatal development of the second trimester through anomaly scans or immediately after birth. However, rare cases of adulthood diagnosis has also been observed.
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It was suspected that Turkana Boy suffered from a congenital disorder, either of dwarfism or scoliosis. This was because the rib bones appeared asymmetrical to the spine and the reason was attributed to skeletal dysplasia. However, in 2013, a study showed that when the rib bones were carefully rearranged, they became symmetrical against the spine, and that an unusual structure of the vertebrae was characteristic of the early hominins. However, the fossil definitely showed lumbar disc herniation, an injury implicated with the specimen's death.
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Milsap was born January 16, 1943, in Robbinsville, North Carolina, United States. A congenital disorder left him almost completely blind from birth. Abandoned by his mother as an infant, he was raised in poverty by his grandparents in the Smoky Mountains until he was sent to the Governor Morehead School For the Blind in Raleigh, North Carolina at age five. During his childhood, Milsap developed a passion for music, particularly the late-night radio broadcasts of country music, gospel music, and rhythm and blues.
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Medullary sponge kidney is a congenital disorder of the kidneys characterized by cystic dilatation of the collecting tubules in one or both kidneys. Individuals with medullary sponge kidney are at increased risk for kidney stones and urinary tract infection (UTI). Patients with MSK typically pass twice as many stones per year as do other stone formers without MSK. While having a low morbidity rate, as many as 10% of patients with MSK have an increased risk of morbidity associated with frequent stones and UTIs.
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The Currarino syndrome is an inherited congenital disorder where either the sacrum (the fused vertebrae forming the back of the pelvis) is not formed properly, or there is a mass in the presacral space in front of the sacrum, and there are malformations of the anus or rectum. It occurs in approximately 1 in 100,000 people. Anterior sacral meningocele is the most common presacral mass in patients with Currarino syndrome occurring in 60% of cases. Its presence may significantly affect the surgical management of these patients.
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Congenital disorder of glycosylation type IIc or Leukocyte adhesion deficiency-2 (LAD2) is a type of leukocyte adhesion deficiency attributable to the absence of neutrophil sialyl-LewisX, a ligand of P- and E-selectin on vascular endothelium. It is associated with SLC35C1. This disorder was discovered in two unrelated Israeli boys 3 and 5 years of age, each the offspring of consanguineous parents. Both had severe mental retardation, short stature, a distinctive facial appearance, and the Bombay (hh) blood phenotype, and both were secretor- and Lewis-negative.
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A congenital disorder of the tongue is that of ankyloglossia also known as tongue-tie. The tongue is tied to the floor of the mouth by a very short and thickened frenulum and this affects speech, eating, and swallowing. The tongue is prone to several pathologies including glossitis and other inflammations such as geographic tongue, and median rhomboid glossitis; burning mouth syndrome, oral hairy leukoplakia, oral candidiasis (thrush), black hairy tongue and fissured tongue. There are several types of oral cancer that mainly affect the tongue.
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Congenital disorder of glycosylation, Type Iz is a rare disease caused by mutations in the CAD gene. This disease causes epileptic encephalopathy, normocytic anemia, anisopoikilocytosis, and a delay in childhood development. The disease is hereditary and autosomal recessive, and can be fatal in the early years of life. There is also potential use for CAD protein as a target for treating certain tumors, as its role in pyrimidine synthesis can be manipulated to destroy cancer cells that are always growing and in need of new nucleotides.
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Multiple dysmorphic features in a patient with Pitt-Rogers-Danks syndrome: microcephalia, micrognathia and protrusion of the eyeballs A dysmorphic feature is an abnormal difference in body structure. It can be an isolated finding in an otherwise normal individual, or it can be related to a congenital disorder, genetic syndrome or birth defect. Dysmorphology is the study of dysmorphic features, their origins and proper nomenclature. One of the key challenges in identifying and describing dysmorphic features is the use and understanding of specific terms between different individuals.
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This allows embryos that are not affected by defined genetic diseases to be selected and then transferred to the mother's uterus. Sacrococcygeal teratomas, tumours formed from different types of tissue, that can form, are thought to be related to primitive streak remnants, which ordinarily disappear. First arch syndromes are congenital disorders of facial deformities, caused by the failure of neural crest cells to migrate to the first pharyngeal arch. Spina bifida a congenital disorder is the result of the incomplete closure of the neural tube.
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Olson played high school football at Hartford Union High School, where he was both an offensive and defensive lineman. He was all-state first-team player at both positions in his senior year, in addition to being named lineman of the year for the Wisconsin Little Ten Conference. Olson also helped lead his team to a conference championship with a 9–2 record that year. Following high school, he dislocated his left knee as a result of a congenital disorder that affects the tissues around his kneecaps.
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Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor abnormalities of the hands and feet (syndactyly). Individuals with more severe cases of SCS may have mild to moderate mental retardation or learning disabilities.
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Philadelphia: Churchill Livingstone/Elsevier, 2009. p601-2. Print. Treacher-Collins Syndrome: (TCS) A congenital disorder caused by a defective protein known as treacle, and is characterized by craniofacial deformities; malformed or absent ears are also seen in this syndrome. The effects may be mild, undiagnosed to severe, leading to death. Because the ear defects are much different in this disorder and not only affect the outer ear, but the middle ear as well, reconstructive surgery may not help with the child's hearing and in this case a Bone Anchored Hearing Aid would be best.
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It is suggested that the diagnostic criteria for Malpuech syndrome should include cleft lip and/or palate, typical associated facial features, and at least two of the following: urogenital anomalies, caudal appendage, and growth or developmental delay. Due to the relatively high rate of hearing impairment found with the disorder, it too may be considered in the diagnosis. Another congenital disorder, Wolf-Hirschhorn (Pitt-Rogers-Danks) syndrome, shares Malpuech features in its diagnostic criteria. Because of this lacking differentiation, karyotyping (microscopic analysis of the chromosomes of an individual) can be employed to distinguish the two.
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Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation and postnatal growth retardation. Other symptoms include transient hypothyroidism, macular degeneration and torticollis. The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. An individual with YSS has been identified with having symptoms to a similar syndrome known as Ohdo Blepharophimosis syndrome, showing that it is quite difficult to diagnose the correct condition based on the symptoms present.
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Fibrochondrogenesis is a congenital disorder presenting several features and radiological findings, some which distinguish it from other osteochondrodysplasias. These include: fibroblastic dysplasia and fibrosis of chondrocytes (cells which form cartilage); and flared, widened long bone metaphyses (the portion of bone that grows during childhood). Other prominent features include dwarfism, shortened ribs that have a concave appearance, micrognathism (severely underdeveloped jaw), macrocephaly (enlarged head), thoracic hypoplasia (underdeveloped chest), enlarged stomach, platyspondyly (flattened spine), and the somewhat uncommon deformity of bifid tongue (in which the tongue appears split, resembling that of a reptile).
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The term "hereditary prosopagnosia" was introduced if DP affected more than one family member, essentially accenting the possible genetic contribution of this condition. To examine this possible genetic factor, 689 randomly selected students were administered a survey in which seventeen developmental prosopagnosics were quantifiably identified. Family members of fourteen of the DP individuals were interviewed to determine prosopagnosia-like characteristics, and in all fourteen families, at least one other affected family member was found. In 2005, a study led by Ingo Kennerknecht showed support for the proposed congenital disorder form of prosopagnosia.
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Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive congenital disorder characterized by craniofacial anomalies including microcephaly, noticeably low set ears, osteosclerosis, a cleft palate, gum hyperplasia, a hypoplastic nose, and eye proptosis. It is considered to be a lethal disease, and usually leads to death within a few hours of birth. However, a recent report describes two studies in which children with Raine Syndrome have lived to 8 and 11 years old, so it is currently proposed that there is a milder expression that the phenotype can take (Simpson 2009).
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Congressional findings were that the Center "is a vital national resource for meeting the needs of individuals who are deaf-blind and no State currently has the facilities or personnel to meet such needs". There are about 70,000 deaf-blind people in the United States. Most have Usher syndrome, a congenital disorder in which the individual is born deaf and there is loss of sight by adolescence. Federal law mandates that individual States take responsibility for education until the age of 16—after that the Center takes over.
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An x-ray of a hand with a supernumerary digit (polydactyly) Supernumerary body parts are most commonly a congenital disorder involving the growth of an additional part of the body and a deviation from the body plan. Body parts may be easily visible or hidden away, such as internal organs. Many additional body parts form by the same process as conjoined twins: the zygote begins to split but fails to completely separate. This condition may also be a symptom of repeated occurrences of continuous inbreeding in a genetic line.
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Pedicels of podocytes interdigitating to create numerous filtration slits around glomerular capillaries in 5000x electron micrograph A loss of the foot processes of the podocytes (i.e., podocyte effacement) is a hallmark of minimal change disease, which has therefore sometimes been called foot process disease. Disruption of the filtration slits or destruction of the podocytes can lead to massive proteinuria, where large amounts of protein are lost from the blood. An example of this occurs in the congenital disorder Finnish-type nephrosis, which is characterised by neonatal proteinuria leading to end-stage kidney failure.
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Acrania is a rare congenital disorder that occurs in the human foetus in which the flat bones in the cranial vault are either completely or partially absent. The cerebral hemispheres develop completely but abnormally. The condition is frequently, though not always, associated with anencephaly. The foetus is said to suffer from acrania if it meets the following criteria: the foetus should have a perfectly normal facial bone, a normal cervical column but without the foetal skull and a volume of brain tissue equivalent to at least one third of the normal brain size.
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He attended the local school until the age of 12 and showed a remarkable aptitude for learning languages. He was forced to walk with crutches because of a congenital disorder and eventually had to leave school due to difficult financial circumstances. He worked briefly as a tailor's assistant, but after becoming tutor to the son of the village innkeeper, he was enabled by his friends to enter the "Untergymnasium" of Szentgyörgy. By the age of sixteen, he had a good knowledge of Hungarian, Hebrew, Latin, French, and German.
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In children, differential diagnosis is more difficult because of the problems inherent in getting infants to cooperate with a full eye movement investigation. Possible alternative diagnosis for an abduction deficit would include: 1\. Mobius syndrome - a rare congenital disorder in which both VIth and VIIth nerves are bilaterally affected giving rise to a typically 'expressionless' face. 2\. Duane syndrome - A condition in which both abduction and adduction are affected arising as a result of partial innervation of the lateral rectus by branches from the IIIrd oculomotor cranial nerve. 3\.
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Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It usually occurs on one side of the face, but both sides are sometimes affected. If severe, it may result in difficulties in breathing due to obstruction of the trachea—sometimes even requiring a tracheotomy. With an incidence in the range of 1:3500 to 1:4500, it is the second most common birth defect of the face, after cleft lip and cleft palate.
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The psychiatrist Koch sought to make the moral insanity concept more scientific and suggested in 1891 the phrase 'psychopathic inferiority' (later personality) be used instead. This referred to continual and rigid patterns of misconduct or dysfunction in the absence of apparent mental retardation or illness. The diagnosis was meant to imply a congenital disorder, and to be made without moral judgement, though Koch has been described as deeply rooted in a Christian faith. Toward the mid 20th century the terminology of the 'psychopathic' would become specifically associated with an aggressive and anti-social personality.
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Persistent Mullerian duct syndrome (PMDS) is a congenital disorder of male sexual development and is a form of pseudohermaphroditism. Males with PMDS retain normal male reproductive organs and external genitalia, but also possess internal female reproductive organs such as the uterus and fallopian tubes. PMDS is primarily caused by a mutation in the Anti-Mullerian hormone (AMH) gene (PMDS Type 1) or AMHR2 gene (PMDS Type 2). In PMDS Type 1, AMH is either not produced, produced in deficient quantities, defective, or secreted at the wrong critical time for male differentiation.
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Waardenburg Syndrome Type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is characterized by the lack of pigmentation in the skin, hair, and eyes as well as the abnormalities in the outer wall of the cochlea. This subtype lacks the wide distance between the eyes, known as dystopia canthorum, that is observed in most patients with Waardenburg Syndrome. Those affected, exhibit varying degrees of deafness or complete hearing loss along with heterochromia and reports of early graying.
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Adults have head injuries more frequently than any age group resulting from falls, motor vehicle crashes, colliding or being struck by an object, or assaults. Children, however, may experience head injuries from accidental falls or intentional causes (such as being struck or shaken) leading to hospitalization. Acquired brain injury (ABI) is a term used to differentiate brain injuries occurring after birth from injury, from a genetic disorder, or from a congenital disorder. Unlike a broken bone where trauma to the body is obvious, head trauma can sometimes be conspicuous or inconspicuous.
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The weakness tends to be more severe in the proximal muscles rather than the distal muscles. The ocular muscles are normally spared. The disorder is often clinically categorized into groups with wide ranges of overlapping severity, from the most severe neonatal form which is incompatible with life, to a form so mild that it may not be diagnosed since the person appears to function at the lowest end of normal strength and breathing adequacy. Sporadic late onset nemaline myopathy (SLONM) is not a congenital disorder and is considered a different muscle disease from NM, which has its onset at birth or early childhood.
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Hirschsprung's disease is a congenital disorder of the colon in which nerve cells of the myenteric plexus in its walls, also known as ganglion cells, are absent. Hirschsprung's disease is a form of functional low bowel obstruction due to failure of caudal migration of neuroblasts within developing bowel – this results in an absence of parasympathetic intrinsic ganglion cells in both Auerbach's and Meissner's plexuses. The distal large bowel from the point of neuronal arrest to the anus is continuously aganglionic. It is a rare disorder (1:5000), with prevalence among males being four times that of females.
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However, although younger individuals have smaller hearts, the high ratio of tumor-to-heart sizes may generate low cardiac output, which leads to a poor outcome. In addition, literature revealed that 18 of 178 patients with cardiac fibroma were diagnosed during prenatal and neonatal periods, resulting in the tumor having a certain size regardless of the child's age. These findings suggest that cardiac fibromas may be a congenital disorder. Successful Surgical Excision of a Large Cardiac Fibroma in an Asymptomatic Child: A 3-year-old girl, who was asymptomatic, underwent a successful surgical excision of a large cardiac fibroma.
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Treatment is often required to correct such abnormalities according to the range of symptoms present, whilst treatment options vary from conservative expectant management to resection of caudal tissue to restore normal function or appearance. As a rare congenital disorder, the prevalence at birth is less than 1 per 100,000 with less than 100 cases reported worldwide. The term "caudal duplication syndrome" has been coined since 1993 to describe caudal abnormalities and conditions. However, there has been recent debate into the appropriateness of the term being "caudal split syndrome" instead of caudal duplication due to the "splitting" nature of the abnormalities, rather than "duplication".
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Burnside-Butler syndrome is a congenital disorder caused by microdeletion of DNA sequences involving four neurodevelopmental genes (TUBGCP5, CYFIP1, NIPA1, and NIPA2). It is associated with a number of developmental and psychiatric disorders; however, not all individuals are clinically affected. More studies are needed to delineate the range of clinical presentation. The 15q11.2 BP1–BP2 microdeletion (Burnside-Butler syndrome) was the most common cytogenetic abnormality found in a recent study using ultra-high resolution chromosomal microarray analysis optimized for neurodevelopmental disorders of 10,351 consecutive patients presenting for genetic laboratory testing who had autism spectrum disorders (ASD).
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Sirolimus also shows promise in treating tuberous sclerosis complex (TSC), a congenital disorder that leaves sufferers prone to benign tumor growth in the brain, heart, kidneys, skin, and other organs. After several studies conclusively linked mTOR inhibitors to remission in TSC tumors, specifically subependymal giant-cell astrocytomas in children and angiomyolipomas in adults, many US doctors began prescribing sirolimus (Wyeth's Rapamune) and everolimus (Novartis's RAD001) to TSC patients off-label. Numerous clinical trials using both rapamycin analogs, involving both children and adults with TSC, are underway in the United States. Most studies thus far have noted that tumors often regrew when treatment stopped.
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Medical knowledge and documentation of this disorder is poor, likely due to a combination of factors including recent discovery, low prevalence, and the more or less aesthetic nature of the effects of the skin disorder. Thus the pathophysiology of Becker's nevus remains unclear. While it is generally considered an acquired rather than congenital disorder, there exists at least one case report documenting what researchers claim is a congenital Becker's nevus with genetic association: a 16-month-old boy with a hyperpigmented lesion on his right shoulder whose father has a similar lesion on his right shoulder.
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Neurotrauma, brain damage or brain injury (BI) is the destruction or degeneration of brain cells. Brain injuries occur due to a wide range of internal and external factors. In general, brain damage refers to significant, undiscriminating trauma-induced damage, while neurotoxicity typically refers to selective, chemically induced neuron damage. A common category with the greatest number of injuries is traumatic brain injury (TBI) following physical trauma or head injury from an outside source, and the term acquired brain injury (ABI) is used in appropriate circles to differentiate brain injuries occurring after birth from injury, from a genetic disorder, or from a congenital disorder.
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The German psychiatrist Koch sought to make the moral insanity concept more scientific, and in 1891 suggested the phrase 'psychopathic inferiority', theorized to be a congenital disorder. This referred to continual and rigid patterns of misconduct or dysfunction in the absence of apparent mental retardation or illness, supposedly without a moral judgment. Described as deeply rooted in his Christian faith, his work established the concept of personality disorder as used today. 20th century In the early 20th century, another German psychiatrist, Emil Kraepelin, included a chapter on psychopathic inferiority in his influential work on clinical psychiatry for students and physicians.
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Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare autosomal dominant congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic nails, familial short stature, developmental delay and distinctive facies. Further signs are known to be associated with this syndrome.ORPHANET - About rare diseases - About orphan drugs The name originates from the researchers who first defined and noticed the syndrome and its clinical signs. \- Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails It is believed that the syndrome is inherited in an autosomal dominant pattern, though there has been no new research undertaken for this rare disease.
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Mutations in the B4GALT7 gene that result in a defective galactosyltransferase I enzyme with reduced or absent activity are associated with Spondylodysplastic, formerly progeroid type Ehlers-Danlos syndrome. The reduced activity of B4GALT7 is associated with a reduced substitution of the proteoglycans decorin and biglycan with glycosaminoglycan carbohydrate chains, and with alterations in heparan sulfate biosynthesis, resulting in delayed wound repair, altered migration, adhesion and contractility of patient fibroblasts. Since mutations in B4GALT7 impair a glycosylation pathway, the resulting subtype of Ehlers-Danlos syndrome may be considered a congenital disorder of glycosylation (CDG), according to the new CDG nomenclature. Mutations in B4GALT7 cause Larsen syndrome.
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Urofacial syndrome, or Ochoa syndrome is an autosomal recessive congenital disorder characterized by an association of a lower urinary tract and bowel dysfunction with a typical facial expression: When attempting to smile, the patient seems to be crying or grimacing. It was first described by the Colombian physician Bernardo Ochoa in the early 1960s. The inverted facial expression presented by children with this syndrome allows for early detection of the syndrome, which is vital for establishing a better prognosis as urinary related problems associated with this disease can cause harm if left untreated. Incontinence is another easily detectable symptom of the syndrome that is due to detrusor-sphincter discoordination.
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James was a competent racing driver mainly between 1952 and 1954, but suffered from a Congenital disorder, which made it difficult for him to keep his weight down. Despite that, he was raced 1952 for Ecurie Ecosse in his own Jaguar XK120, recording a number of good results, including a third place in the Grand Prix de Reims and a sixth place in the British Empire Trophy. When the team switched to Jaguar C-Types, Scott Douglas needed to obtain one to remain at Ecurie Ecosse. However, all UK orders had been taken up, so he used his influence and brought an ‘export’ version from France for the 1953 season.
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More than 1 in 2 people with OI also have dentinogenesis imperfecta (DI) - a congenital disorder of formation of dentine. Dental treatment may pose as a challenge as a result of the various deformities, skeletal and dental, due to OI. Children with OI should go for a dental check-up as soon as their teeth erupt, this may minimize tooth structure loss as a result of abnormal dentine, and they should be monitored regularly to preserve their teeth and oral health. Many people with OI are treated with bisphosphonates, and there are several complications with dental procedures when a person is taking BP, namely bisphosphonate-related osteonecrosis of the jaw (BRONJ).
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Various types of mutations including point mutations as well as small- and large-scale deletional mutations cause an autosomal dominant genetic disorder, the Barakat syndrome (also termed hypoparathyroidism, deafness, and renal dysplasia syndrome). The location of GATA3 borders that of other critical sites on chromosome 10, particularly a site located at 10p14-p13. Mutations in this site cause the congenital disorder DiGeorge syndrome/velocardiofacial syndrome complex 2 (or DiGeorge syndrome 2). Large-scale deletions in GATA3 may span into the DiGeorge syndrome 2 area and thereby cause a complex syndrome with features of the Barakat syndrome combined with some of those of the DiGeorge syndrome 2.
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Early prenatal CAH treatment has been shown to reduce some CAH symptoms, but it does not treat the underlying congenital disorder. This use is controversial: it is inadequately studied, only around one in ten of the fetuses of women treated are at risk of the condition, and serious adverse events have been documented. Experimental use of dexamethasone in pregnancy for fetal CAH treatment was discontinued in Sweden when one in five cases suffered adverse events. A small clinical trial found long-term effects on verbal working memory among the small group of children treated prenatally, but the small number of test subjects means the study cannot be considered definitive.
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In 1896 he relocated to the hospital in Braunschweig as head of its surgical department. He was elected president of the Deutsche Gesellschaft für Chirurgie, but died soon afterwards of sepsis, contacted when operating on a patient with a gunshot wound.The Man Behind the Syndrome by Greta BeightonOtto Gerhard Karl Sprengel at Who Named It He was especially interested in abdominal surgery, and introduced a transverse sub- umbilical incision referred to as "Sprengel's incision".Hernias and Surgery of the abdominal wall edited by Jean-Paul ChevrelSprengel's incision Who Named It In 1891 he described a congenital disorder affecting the scapula that is now known as "Sprengel's deformity".
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Similarly, women would travel to the Netherlands when it became legal to have abortions there in the 1970s. Some people who support abortion rights see abortion as a last resort and focus on situations where they feel abortion is a necessary option. Among these situations are those where the woman was raped, her health or life (or that of the fetus) is at risk, contraception was used but failed, the fetus has acute congenital disorder and defects, incest, financial constraints, overpopulation, or she feels unable to raise a child. One common reason women give for terminating unintended pregnancies is that having a baby would prevent them from achieving goals such as pursuing an education.
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Ectrodactyly, split hand, cleft hand, derived from the Greek ektroma (abortion) and daktylos (finger) involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet. It is a substantial rare form of a congenital disorder in which the development of the hand is disturbed. It is a type I failure of formation – longitudinal arrest.
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Blue brindle Glen of Imaal Terrier puppy A genetic test is available for progressive retinal atrophy (type crd3), a congenital disorder that gradually results in blindness beginning at about five years of age. As blindness from this cause did not become apparent until well into the breeding years, it was difficult to breed out this trait before the advent of the test. Completely eliminating the defective gene will be tricky even now, as breeding only clear-to-clear would severely restrict choices in an already small gene pool. It is straightforward, however, to produce litters that will never be affected by this type of PRA, even though some individuals in the litter may carry the gene.
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Bonnet–Dechaume–Blanc syndrome, also known as Wyburn-Mason syndrome, is a rare congenital disorder characterized by arteriovenous malformations of the brain, retina or facial nevi. The syndrome has a number of possible symptoms and can, more rarely, affect the skin, bones, kidneys, muscles, and gastrointestinal tract. When the syndrome affects the brain, people can experience severe headaches, seizures, acute stroke, meningism, and progressive neurological deficits due to acute or chronic ischaemia caused by arteriovenous shunting. In the retina, the syndrome causes retinocephalic vascular malformations that tend to be present with intracranial hemorrhage and lead to decreased visual acuity, proptosis, pupillary defects, optic atrophy, congestion of bulbar conjunctiva, and visual field defects.
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The first pediatric hospice facility in the United States, the George Mark Children's House Hospice of San Francisco, opened in 2003. While pediatric hospice options are expanding, as of 2006 many adult-oriented hospice programs remained ill-prepared to handle younger populations.. The primary diagnosis for children in hospice treatment is cancer, but, like the adult population, children may enter hospice for a variety of conditions, including AIDS, prematurity, congenital disorder, cerebral palsy, cystic fibrosis, or "death-inducing trauma", such as automobile accidents. Hospice care, which is intended to treat the whole family, may also be made available to families expecting a child who is not anticipated to survive long after delivery. The recommended model of hospice for children differs from that of adults.
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CHS is exhibited typically as a congenital disorder, but in rare circumstances, can also result from severe brain or spinal trauma or injury (such as after an automobile accident, stroke, asphyxiation, brain tumor, encephalitis, poisoning, as a complication of neurosurgery) or due to particular neurodegenerative conditions such as Parkinson's disease, multiple system atrophy, or multiple sclerosis. Long and Allen (1984) were the first to report the abnormal brainstem auditory evoked responses in an alcoholic woman who recovered from Ondine's curse. These investigators hypothesized that their patient's brainstem was poisoned — not destroyed — by her chronic alcoholism. Medical investigation of patients with this syndrome has led to a deeper understanding of how the body and brain regulate breathing on a molecular level.
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A man with a lower-extremity prosthesis In medicine, a prosthesis (plural: prostheses; from Ancient Greek prosthesis, "addition, application, attachment") or prosthetic implant is an artificial device that replaces a missing body part, which may be lost through trauma, disease, or a condition present at birth (congenital disorder). Prostheses are intended to restore the normal functions of the missing body part. Amputee rehabilitation is primarily coordinated by a physiatrist as part of an inter-disciplinary team consisting of physiatrists, prosthetists, nurses, physical therapists, and occupational therapists. Prostheses can be created by hand or with computer-aided design (CAD), a software interface that helps creators design and analyze the creation with computer-generated 2-D and 3-D graphics as well as analysis and optimization tools.
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X-ray of 2-month-old female child with ulnar dimelia Ulnar dimelia, also referred to simply as mirror hand, is a very rare congenital disorder characterized by the absence of the radial ray, duplication of the ulna, duplication of the carpal, metacarpal, and phalanx bones, and symmetric polydactyly. In some cases surgical amputation is performed to remove the duplicate carpals, metacarpals and phalanges. As of 2015, approximately 70 cases have been recorded in the medical literature. Bone deformity may also accompany nervous and arterial anomalies in some cases due to the duplication of the ulnar nerve, the presence of abnormal arterial arches, the duplication of the ulnar artery, the shortening of the radial nerve, and the absence of the radial artery.
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Because of such planning for multiple burials as well as their abundance in the archaeological record, the seemingly purposeful presence of both sexes, and an apparent preference for individuals with some congenital disorder (about a third of identified burials), it is speculated that these cultures practiced human sacrifice either in fear, disdain, or worship of those with abnormal features, like in many present-day and historical societies. Intricate funerals, in addition to evidence of shamanism and ritualism, has also provoked hypotheses of the belief of an afterlife by EEMH. The earliest evidence of skull cups, and thus ritual cannibalism, comes from the Magdalenian of Gough’s Cave, England. Further concrete evidence of such rituals does not appear until after the Palaeolithic.
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The formation of the corpus callosum begins with the first midline crossing of pioneer axons around week 12 in the prenatal development of the human, or day 15 in the embryogenesis of the mouse. Agenesis of the corpus callosum (ACC) is a rare congenital disorder that is one of the most common brain malformations observed in human beings, in which the corpus callosum is partially or completely absent. ACC is usually diagnosed within the first two years of life, and may manifest as a severe syndrome in infancy or childhood, as a milder condition in young adults, or as an asymptomatic incidental finding. Initial symptoms of ACC usually include seizures, which may be followed by feeding problems and delays in holding the head erect, sitting, standing, and walking.
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Persistent Müllerian duct syndrome (PMDS) is the presence of Müllerian duct derivatives (fallopian tubes, uterus, and/or the upper part of the vagina) in what would be considered a genetically and otherwise physically normal male animal by typical human based standards. In humans, PMDS typically is due to an autosomal recessive congenital disorder and is considered by some to be a form of pseudohermaphroditism due to the presence of Müllerian derivatives. Typical features include undescended testes (cryptorchidism) and the presence of a small, underdeveloped uterus in an XY infant or adult. This condition is usually caused by deficiency of fetal anti-Müllerian hormone (AMH) effect due to mutations of the gene for AMH or the anti-Müllerian hormone receptor, but may also be as a result of insensitivity to AMH of the target organ.
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In a 1986 article in the British Medical Journal, Michael Cohen and J. A. R. Tibbles put forward the theory that Merrick had suffered from Proteus syndrome, a very rare congenital disorder recently identified by Cohen in 1979 (this explains why this diagnosis was not advanced previously), citing Merrick's lack of reported café au lait spots and the absence of any histological proof that he had suffered from the previously conjectured syndrome. In fact, Proteus syndrome affects tissue other than nerves, and it is a sporadic disorder rather than a genetically transmitted disease. Cohen and Tibbles said Merrick showed the following signs of Proteus syndrome: "macrocephaly; hyperostosis of the large skull; hypertrophy of long bones; and thickened skin and subcutaneous tissues, particularly of the hands and feet, including plantar hyperplasia, lipomas, and other unspecified subcutaneous masses". In a letter to Biologist in June 2001, British teacher and Chartered Biologist Paul Spiring speculated that Merrick might have suffered from a combination of Proteus syndrome and neurofibromatosis.
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El Salvador's 1956 Penal Code contained no explicit exception to its prohibition of abortion, although, under accepted principles of criminal law, one could be justified if necessary to preserve the life of the pregnant woman. In response to the fact that the practice of illegal abortion was common, and was a major contributor to the rate of maternal mortality, the Salvadoran government chose to expand the cases in which abortion was permitted. Under the new Penal Code of 1973, an abortion could be legally allowed under three major conditions: if the pregnant woman's life was endangered and abortion was the only means to preserve it, if her pregnancy had resulted from rape or statutory rape, or if a serious congenital disorder was detected in the fetus. An abortion caused on part of the woman's negligence was exempted from prosecution, and the government also provided reduced penalties for a woman of good standing if she had consented to an illegal abortion, or self-induced one, in the interest of protecting her reputation.
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