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

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Weyers acrofacial dysostosis: 1
  - Musculoskeletal Abnormalities: 43
    - Congenital Limb Deformities: 8
      - Weyers acrofacial dysostosis: 1
  - Stomatognathic System Abnormalities
    - Tooth Abnormalities: 33
      - Weyers acrofacial dysostosis: 1
Stomatognathic Diseases: 705
- Tooth Diseases: 33
  - Tooth Abnormalities: 33
    - Weyers acrofacial dysostosis: 1
- Stomatognathic System Abnormalities
  - Tooth Abnormalities: 33
    - Weyers acrofacial dysostosis: 1
Musculoskeletal Diseases: 719
- Musculoskeletal Abnormalities: 43
  - Congenital Limb Deformities: 8
    - Weyers acrofacial dysostosis: 1

Gritli-Linde,%20A Selected Research

Gritli-Linde,%20A Research Topics