Meckel-Gruber syndrome
English
Etymology
Named after Johann Meckel and Georg Gruber.
Noun
Meckel-Gruber syndrome (uncountable)
- 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