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.