COACH syndrome

COACH syndrome

Cerebellar vermis hypo/aplasia, Oligophrenia, congenital Ataxia, ocular Coloboma, and Hepatic fibrosis syndrome. A disorder (OMIM:216360) characterised by mental retardation, ataxia due to cerebellar hypoplasia, hepatic fibrosis and often, coloboma and renal cysts.

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

Molecular pathology
Caused by defects of:
• CC2D2A, which encodes a protein required for ciliogenesis and sonic hedgehog/SHH signalling; 
• RPGRIP1L, which encodes a protein that may be involved in apoptosis, craniofacial development, patterning of limbs and formation of the left-right axis; and
• TMEM67, which encodes meckelin, a key ciliary protein.
References in periodicals archive ?
ST HELENS will be wary of 'new coach syndrome' when they take on Wakefield Wildcats tonight.
(6-8) Related disorders such as Dekaban-Arima syndrome, COACH syndrome and Senior-Loken syndrome may also demonstrate the molar tooth sign, and they often share the clinical syndrome related to hindbrain malformation with Joubert patients.
Seattle have lame-duck coach syndrome to deal with after Mike Holmgren announced this is his last year, while Arizona have talent defensively and lost a lot of close games last year, but then good teams win those games.
'There is the new coach syndrome, where players do want to impress, but we've been on a poor run recently and some of my players need to impress me.'
it's Saints turn to cope " with 'new coach syndrome' after Hull KR boss Craig Sandercock was given his marching orders just a few days before today's game.