Catalog
Meckel-Gruber syndrome
Link to WHO Definition
Meckel-Gruber syndrome – http://id.who.int/icd/entity/695796893
Meckel syndrome (MKS) is a monogenic disease characterised by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly, and a lethal course, with death occurring in the perinatal period.