Meckel-Gruber syndrome

English

Etymology

Named after Johann Meckel and Georg Gruber.

Noun

Meckel-Gruber syndrome (uncountable)

1. 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.

   Synonym: dysencephalia splanchnocystica