Meckel syndrome type 3

Meckel syndrome type 3

An autosomal recessive disorder (OMIM:607361) 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 TMEM67, which encodes meckelin, a key ciliary protein.