Ellis Van Creveld syndrome

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Ellis Van Creveld Syndrome

Ellis Van Creveld Syndrome (pronounced: El-lis Van Kre-veld Sin-drome), also known as EVC Syndrome or Chondroectodermal Dysplasia, 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, two pediatricians who first described the condition in 1940.

Etymology

The syndrome is named after Richard W.B. Ellis and Simon van Creveld, two pediatricians who first described the condition in 1940. The term "Chondroectodermal Dysplasia" refers to the syndrome's effect on the growth of cartilage (chondro-) and skin (ectodermal).

Symptoms

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 distress, and abnormalities in the bones of the wrist.

Causes

Ellis Van Creveld Syndrome is caused by mutations in the EVC or EVC2 gene. These genes are involved in the development of bones and other tissues. The syndrome is inherited in an autosomal recessive manner, meaning that an individual must have two copies of the mutated gene to develop the syndrome.

Diagnosis

Diagnosis of Ellis Van Creveld Syndrome is typically based on physical examination and the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis.

Treatment

Treatment for Ellis Van Creveld Syndrome is symptomatic and supportive. This may include surgery to correct polydactyly or heart defects, dental care to address dental anomalies, and physical therapy to improve mobility and strength.

Prognosis

The prognosis for individuals with Ellis Van Creveld Syndrome varies. Some individuals may have a normal lifespan with few complications, while others may experience serious health problems related to heart defects or respiratory distress.

External links

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