COACH syndrome
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COACH syndrome, also known as Joubert syndrome with hepatic defect,[4] 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.[1] It falls under the category of a Joubart Syndrome-related disorder (JSRD).[3]
Quick Facts Other names, Specialty ...
COACH syndrome | |
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Other names | Joubert syndrome with hepatic defect, Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, Gentile syndrome, and Joubert syndrome with congenital hepatic fibrosis. |
An example of coloboma of the eye | |
Specialty | Medical genetics |
Symptoms | Cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma, hepatic fibrosis, and intellectual disability.[1] |
Usual onset | Birth or early childhood.[2] |
Causes | Genetics.[2] |
Diagnostic method | Clinical criteria. |
Frequency | Only 43 cases have been reported from its discovery until 2010.[3] |
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The syndrome was first described in 1974 by Alasdair Hunter and his peers at the Montreal Children's Hospital.[5] It was not until 1989 that it was labelled COACH syndrome, by Verloes and Lambotte, at the Sart Tilman University Hospital, Belgium.[6]