Meckel syndrome type 5
Meckel syndrome type 5An 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.
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.
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