EVC2-related Ellis-van Creveld syndrome is an inherited condition that impacts the formation of cartilage. Affected individuals typically have shortening of the arms and legs (dwarfism), a narrow chest due to shortened ribs, abnormally formed fingernails and toenails, dental abnormalities, and extra fingers (polydactyly). Approximately 60% of affected individuals are born with heart defects. Common dental problems include small teeth, missing teeth, abnormal tooth alignment or teeth that are present at birth.
Some features of EVC2-related Ellis-van Creveld syndrome may be detected before birth via ultrasound, such as extra fingers, shortening of the bones or heart defects.
Ellis-van Creveld syndrome is a rare disorder; therefore it is difficult to predict its frequency in the general population. An estimated 1 in 60,000 to 1 in 200,000 individuals of various ethnicities are affected worldwide. Mutations in the EVC gene and the EVC2 gene are responsible for more than have of all reported cases Ellis-van Creveld syndrome. It is more commonly seen among individuals in the Amish community.
There is no cure for the underlying cause of this condition and treatment is based on symptoms. In the neonatal period, treatment is based on management of respiratory and cardiac symptoms. Individuals with heart defects will need to be treated by a cardiologist. Affected individuals typically require dental treatment and infants born with teeth may require removal if the teeth impact feeding.
Prognosis of affected individuals may be impacted by whether the size of the chest restricts breathing after birth and the presence and severity of heart defects. Individuals who survive infancy will likely have a normal life expectancy.
Explanations of an extensive number of genetic diseases written for everyday people by the U.S. government's National Institutes of Health.
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