Meckel syndrome type 4
Meckel syndrome type 4An autosomal recessive disorder (OMIM:611134) characterised by renal cysts and variably associated features, including developmental anomalies of the CNS (typically encephalocele, hepatic duct dysplasia and cysts) and polydactyly.
Caused by defects CEP290, which encodes a protein belonging to the tectonic-like complex that is required for tissue-specific ciliogenesis and may regulate cilia membrane composition.
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