Weyers acrofacial dysostosis (Curry-Hall syndrome)

Genetics

• autosomal dominant
• associated with defects in EVC gene
• associated with defects in limbin (EVC2) gene

Clinical manifestations

• features similar to Ellis-van Creveld syndrome but milder phenotype
• dysplastic nails, postaxial polydactyly, acrofacial dysostosis, short limbs, short stature

More general terms

• developmental disorder syndrome (multisystem disorder)
• genetic syndrome (multisystem disorder)
• genetic disease of bone/skeletal system

Database

• OMIM: https://mirror.omim.org/entry/193530