The COACH syndrome is a rare disorder classified as a Joubert syndrome-related disorder (JSRD). The underlying genetic defects affect the primary cilia.
Inheritance: autosomal recessive
COACH is an acronym for:
C: coloboma
O: oligophrenia (mental retardation)
A: ataxia (congenital)
C: cerebellar vermis hypo/aplasia
H: hepatic fibrosis (congenital) with abnormal liver function tests
Other findings may include:
(1) renal insufficiency and/or renal cysts
(2) facial malformations
(3) regenerative hepatic nodules
Mutations in 3 genes can give rise to the COACH syndrome:
(1) MKS3 (TMEM67): at 8q22.1 (cause of most cases)
(2) CC2D2A: at 4p15.32
(3) RPGRIP1L: at 16q12.2
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