Description

Meckel-Gruber syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele (see this term), large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia. Mutations in 14 cilia-related genes have been associated with this disorder, often in the context of consanguineous unions.

External Information

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