Weyers acrofacial dysostosis
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
Also Known As:
Acrodental dysostosis of Weyers; Acrofacial dysostosis of Weyers; Curry Hall syndrome; Curry-Hall syndrome; Weyers acrodental dysostosis
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