Ellis-van Creveld syndrome

Ellis-van Creveld syndrome is a rare condition that affects skeletal development and the skin. People with this condition often have a small stature, extra fingers or toes (called postaxial polydactyly), differences in skin, hair, and nails (ectodermal dysplasia), and heart defects that are present from birth. The syndrome is known by several names, including EVC and Chondroectodermal dysplasia.

Common signs of Ellis-van Creveld syndrome include short stature, extra digits (fingers or toes), and features of ectodermal dysplasia such as differences in the skin, hair, and nails. Congenital heart defects are also a noted feature of the condition.

Ellis-van Creveld syndrome is a genetic condition. Changes in the EVC and EVC2 genes are known to be linked to the condition. These genetic changes affect normal development, leading to the various symptoms seen in people with this syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.