disorders
Cobb Syndrome
Cobb syndrome is a rare, non-inherited disorder characterized by visible skin lesions with underlying spinal angiomas or arteriovenous malformations (AVM). The skin lesions typically are present as Port-Wine Stains (light pink to dark purple birthmarks), but reports exist of angiokeratomas, angiolipomas, and lymphangioma circumscriptum.
Posted September 17, 2022 by Anusha ‐ 2 min read
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Cloves Syndrome
Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevis, Spinal/Skeletal Anomalies/Scoliosis (CLOVES) syndrome is a very rare congenital (present at birth) disorder characterized by a combination of vascular (involving the blood vessels), skin, spinal, and bone or joint abnormalities.
Posted September 17, 2022 by Anusha ‐ 3 min read
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Crouzon Syndrome
Crouzon syndrome, also known as craniofacial dysostosis, is a complex genetic birth disorder that may affect a child’s face, skull, and teeth. In a child with this syndrome, premature fusion of certain skull bones (craniosynostosis) prevents the skull from growing normally and affects the shape of the head and face; sometimes causing increased pressure around the brain.
Posted September 17, 2022 by Anusha ‐ 3 min read
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AIDS Dysmorphic Syndrome
AIDS dysmorphic syndrome, also known as HIV (human immunodeficiency virus) embryopathy, refers to facial malformations in infants believed to be caused by acquired perinatal (before, during, or after birth) HIV infection; however, researchers are not certain that perinatal infection with the HIV virus is actually the cause, as there may be other causes, such as alcohol or drug use.
Posted September 18, 2022 by Anusha ‐ 2 min read
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COACH Syndrome
COACH syndrome, also known as Joubert syndrome with hepatic defect,[1] is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis. The condition is associated with moderate intellectual disability.[2] It falls under the category of a Joubart Syndrome-related disorder (JSRD)
Posted September 17, 2022 by Anusha ‐ 3 min read
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