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

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)

Experts

1.	Goodship, Judith A: 1 article (11/2009)
2.	Ruiz-Perez, Victor L: 1 article (11/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Weyers acrofacial dysostosis:

1.	Proteins (Proteins, Gene)FDA Link 11/15/2009 - "Three convincing causative mutations have been identified in patients with Weyers acrodental dysostosis, which are clustered in the last coding exon of EVC2 and lead to production of a truncated protein lacking the final 43 amino acids. "
2.	LigandsIBA 11/15/2009 - "Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands."
3.	Amino Acids FDA Link 11/15/2009 - "Three convincing causative mutations have been identified in patients with Weyers acrodental dysostosis, which are clustered in the last coding exon of EVC2 and lead to production of a truncated protein lacking the final 43 amino acids. "