Ellis-Van Creveld Dysplasia

What does the name mean?

This rare skeletal dysplasia was first described in 1940 by Richard W. Ellis and Simon van Creveld who coined the term “Chondro-ectodermal dysplasia” to illustrate the main features of this condition: ectodermal involvement (skin, hair and nails) and chondrodysplasia (cartilage and bone anomalies) (2).

How common is Ellis-Van Creveld Dysplasia?

Ellis-Van Creveld Dysplasia is most common in the Amish people of Pennsylvania and the indigenous people of Western Australia. The incidence is estimated at 1 per 60,000 live births. More than 200 cases of EVC have now been reported (3).

Is Ellis-Van Creveld Dysplasia inherited?

Ellis-van Creveld is transmitted in an autosomal recessive mode. The parents are of average stature and must both be carriers of the mutation.

What causes Ellis-Van Creveld Dysplasia?

Recent studies have found that mutations in two nonhomologous genes, positioned in a head-to-head configuration along chromosome 4 (4p16), are responsible for EVC (3).

• What are the physical characteristics of Ellis-Van Creveld Dysplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References