Meckel syndrome
MONDO:0018921Also known as: Meckel-Gruber syndrome
- MONDO:
- MONDO:0018921
- Orphanet:
- 564 ↗
Rare disease34 associated genes
Description
A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele, 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.
Associated genes
+24 more genes — install the extension to see the full list inline on any page.