Ellis–Van Creveld syndrome

Ellis–Van Creveld syndrome (also known as EVC syndrome) is a rare genetic disorder characterized by short stature, polydactyly, nail dysplasia, and dental anomalies. The syndrome is named after Richard W.B. Ellis and Simon van Creveld, who first described it in 1940.

Symptoms and Signs[edit | edit source]

The most common symptoms of Ellis-Van Creveld syndrome include short stature, polydactyly (extra fingers or toes), nail dysplasia (abnormal nail growth), and dental anomalies (abnormalities in the structure and number of teeth). Other symptoms may include congenital heart defects, respiratory problems, and bone abnormalities.

Causes[edit | edit source]

Ellis-Van Creveld syndrome is caused by mutations in the EVC or EVC2 gene. These genes are involved in the formation of cilia, which are small, hair-like structures that project from the surface of cells and are involved in cell movement and signaling.

Diagnosis[edit | edit source]

The diagnosis of Ellis-Van Creveld syndrome is usually based on the physical features observed in the patient. Genetic testing can confirm the diagnosis.

Treatment[edit | edit source]

There is no cure for Ellis-Van Creveld syndrome. Treatment is supportive and depends on the symptoms present in each individual. This may include surgery to correct heart defects or polydactyly, dental care to manage dental anomalies, and physical therapy to manage bone abnormalities.

Prognosis[edit | edit source]

The prognosis for individuals with Ellis-Van Creveld syndrome varies. Some individuals may have a normal lifespan, while others may have life-threatening complications due to heart defects or respiratory problems.

References[edit | edit source]

Ellis–Van Creveld syndrome Resources
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