Meckel syndrome type 1
Meckel syndrome type 1An 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.
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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.