Meckel-Gruber syndrome

Meaning

Noun

• 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.

Origin

• Named after Johann Meckel and Georg Gruber.