<unk> , 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<unk> , by Verloes and Lambotte, at the Sart Tilman University Hospital, Belgium.
COACH syndrome
Adams–Stokes syndrome
MOMO syndrome
Wunderlich syndrome
Hopkins syndrome
PHACE syndrome
Edwards syndrome
PEHO syndrome