Weyers acrofacial dysostosis [Supplementary Concept]
A congenital disorder characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in the limbin (LBN/EVC2) gene. Mutations in this gene are also associated with ELLIS-VAN CREVELD SYNDROME, which is phenotypically similar. OMIM: 193530
Date introduced: August 25, 2010
MeSH Unique ID: C536695
Heading Mapped to:
Entry Terms:
- Curry-Hall syndrome
- Weyers acrodental dysostosis
- Acrofacial dysostosis of Weyers
- Acrodental dysostosis of Weyers
- Curry Hall syndrome