syndromes
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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TAR Syndrome
TAR syndrome (thrombocytopenia with absent radius) is a rare genetic disorder that is characterized by the absence of the radius bone in the forearm and a dramatically reduced platelet count.
Posted September 17, 2022 by Anusha ‐ 2 min read
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CHILD Syndrome
CHILD syndrome (an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is an inherited disorder, affecting primarily women, that is characterized by ichthyosis-like skin abnormalities and limb defects on one side of the body. Other abnormalities may be present, as well.
Posted September 18, 2022 by Anusha ‐ 3 min read
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