Meckel syndrome type 6

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Meckel syndrome type 6

An autosomal recessive disorder (OMIM:612284) characterised by renal cysts and variably associated features, including developmental anomalies of the CNS (e.g., encephalocele, hepatic duct dysplasia and cysts) and polydactyly.

Molecular pathology
Caused by defects CC2D2A, which encodes a protein required for ciliogenesis and sonic hedgehog/SHH signalling.