Meckel syndrome type 5

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Meckel syndrome type 5

An autosomal recessive disorder (OMIM:611561) 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 RPGRIP1L, which encodes a protein that may be involved in apoptosis, craniofacial development, patterning of limbs and formation of the left-right axis.