Meckel syndrome type 1

Meckel syndrome type 1

An autosomal recessive disorder (OMIM:249000) 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 of MKS1, which encodes a protein that localises to the basal body and is required for forming the primary cilia in ciliated epithelial cells.