Meckel syndrome type 6
Meckel syndrome type 6An 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.
Caused by defects CC2D2A, which encodes a protein required for ciliogenesis and sonic hedgehog/SHH signalling.
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