EVC

Ellis-van Creveld syndrome (EVC) is a rare genetic disorder that affects bone growth, leading to short stature and other skeletal abnormalities. It is also associated with congenital heart defects and abnormalities of other organs. The syndrome is named after Richard W.B. Ellis and Simon van Creveld, who first described it in 1940.

Causes

EVC is caused by mutations in the EVC or EVC2 genes, located on chromosome 4p16. These genes are important for the development of the limbs, heart, and other parts of the body. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Symptoms

The symptoms of Ellis-van Creveld syndrome can vary significantly among individuals but commonly include:

• Short stature, often noticeable from birth
• Shortening of the forearms and lower legs (Acromelic dysplasia)
• Polydactyly, or extra fingers and toes
• Congenital heart defects, particularly defects of the atrial septum
• Abnormalities of the nails and teeth
• Sparse hair and skin abnormalities

Diagnosis

Diagnosis of EVC is based on the physical symptoms and can be confirmed with genetic testing to identify mutations in the EVC or EVC2 genes. Prenatal diagnosis is possible if there is a known risk of the syndrome in the family.

Treatment

There is no cure for Ellis-van Creveld syndrome, and treatment focuses on managing the symptoms and complications. This may include:

• Surgery to correct heart defects or skeletal abnormalities
• Dental care for tooth abnormalities
• Support for respiratory problems, if present
• Physical therapy to improve mobility

Prognosis

The prognosis for individuals with Ellis-van Creveld syndrome varies depending on the severity of the symptoms. Heart defects are the most serious complication and can be life-threatening. However, with appropriate medical and surgical management, many individuals with EVC can lead active lives.

Epidemiology

EVC is a rare condition, with a higher prevalence in certain populations, such as the Old Order Amish community in Pennsylvania, due to the founder effect. The exact incidence is unknown but is estimated to be very low worldwide.