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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