Ellis-Van Creveld syndrome

Print

Disease Overview

Ellis-Van Creveld syndrome is an inherited condition that affects bone growth. Affected people generally have short stature; short arms and legs (especially the forearm and lower leg); and a narrow chest with short ribs. Other signs and symptoms may include polydactyly; missing and/or malformed nails; dental abnormalities; and congenital heart defects. More than half of people affected by Ellis-van Creveld syndrome have changes (mutations) in the EVC or EVC2 genes; the cause of the remaining cases is unknown. The condition is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[9454][9455]


Synonyms

  • Chondroectodermal dysplasia
  • Mesoectodermal dysplasia
  • Ellis Van Creveld syndrome
  • Mesodermic dysplasia

For more information, visit GARD.

National Organization for Rare Disorders