COACH syndrome

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COACH syndrome2016-11-25T12:15:41+00:00

COACH syndrome

COACH  syndrome image from New Medical Terms

COACH syndrome

NEUROLOGY 

Definition A disorder (OMIM:216360) characterised by the acronym COACH:

• Cerebellar vermis hypo/aplasia

• Oligophrenia

• congenital Ataxia

• ocular Coloboma

Hepatic fibrosis

Clinical findings Mental retardation, ataxia due to cerebellar hypoplasia, hepatic fibrosis and often, coloboma and renal cysts.

Imaging Patients demonstrate the molar tooth sign, a midbrain-hindbrain malformation classically associated with Joubert syndrome. 

Molecular pathology Defects of

CC2D2A, which encodes a protein required for ciliogenesis and sonic hedgehog/SHH signaling, 

RPGRIP1L, which encodes a protein that may be involved in apoptosis, craniofacial development, patterning of limbs, and formation of the left-right axis,

TMEM67, which encodes meckelin, a major ciliary protein

all cause COACH syndrome

Synonym Joubert syndrome with congenital hepatic fibrosis

References http://www.uniprot.org/uniprot/Q5HYA8

http://www.omim.org/entry/216360

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