Ellis-van Creveld syndrome (chondroectodermal dysplasia)

Epidemiology

• increased incidence in Pennsylvania Amish population

Pathology

• skeletal dysplasia
  • chondrodystrophy
  • polydactyly
• ectodermal dysplasia
• congenital heart defect
  • generally atrial-septal defect (60%) with single atrium
    • cor trioculare biventriculare

Genetics

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

Clinical manifestations

• skeletal dysplasia (postaxial polydactyly, short limbs, short ribs, dysplastic nails & teeth)
• congenital heart defect

More general terms

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

Additional terms

• Weyers acrofacial dysostosis (Curry-Hall syndrome)

Database

• OMIM: https://mirror.omim.org/entry/225500