Meckel–Gruber syndrome

Meckel syndrome
Other namesMeckel–Gruber syndrome, Gruber syndrome, Dysencephalia splanchnocystica
Embryos with mutation in MKS1KRC, a cause of Meckel syndrome.
SpecialtyMedical genetics 
Named after

Meckel-Gruber syndrome is a rare, lethal ciliopathic genetic disorder, characterized by renal cystic dysplasia, central nervous system malformations (occipital encephalocele), polydactyly (postaxial), hepatic developmental defects, and pulmonary hypoplasia due to oligohydramnios. Meckel–Gruber syndrome is named for Johann Meckel and Georg Gruber. The prognosis for infants born with Meckel-Gruber syndrome is poor, most being stillborn or dying within hours to days.

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