Meckel syndrome type 4

Meckel syndrome type 4

An 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.

Molecular pathology
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.