COACH syndrome
| COACH syndrome | |
|---|---|
| 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. |
| Usual onset | Birth or early childhood. |
| Causes | Genetics. |
| Diagnostic method | Clinical criteria. |
| Frequency | Only 43 cases have been reported from its discovery until 2010. |
COACH syndrome, also known as Joubert syndrome with hepatic defect, 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. It falls under the category of a Joubart Syndrome-related disorder (JSRD).
The syndrome was first described in 1974 by Alasdair Hunter and his peers at the Montreal Children's Hospital. It was not until 1989 that it was labelled COACH syndrome, by Verloes and Lambotte, at the Sart Tilman University Hospital, Belgium.