MeSH Browser

MeSH Supplementary: Weyers acrofacial dysostosis
Unique ID: C536695
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536695
Entry Term(s): Acrodental dysostosis of Weyers; Acrofacial dysostosis of Weyers; Curry Hall syndrome; Curry-Hall syndrome; Weyers acrodental dysostosis
Heading Mapped to: *Abnormalities, Multiple; *Tooth Abnormalities; *Limb Deformities, Congenital
Frequency: 15
Note: 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 of Entry: 2010/08/25
Revision Date: 2016/09/29

Weyers acrofacial dysostosis MeSH Supplementary Concept Data 2024