What is EVC2-related Ellis-van Creveld Syndrome?
Ellis-van Creveld syndrome, caused by harmful genetic changes (mutations) in the EVC and EVC2 genes, is an inherited condition that affects the formation of cartilage. EVC2-related Ellis-van Creveld syndrome specifically refers to the form of the condition caused by mutations in the EVC2 gene. The spectrum of features seen in both EVC-related and EVC2-related Ellis-van Creveld syndrome are the same. 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, shortened bones, or heart defects.
How common is EVC2-related Ellis-van Creveld Syndrome?
The frequency of Ellis-van Creveld syndrome is estimated to be 1 in 60,000 to 1 in 200,000 individuals of various ethnicities worldwide. Mutations in the EVC and EVC2 genes are responsible for more than half of all reported cases of Ellis-van Creveld syndrome. It is more commonly seen among individuals in the Amish community.
How is EVC2-related Ellis-van Creveld Syndrome treated?
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 affect feeding negatively.
What is the prognosis for an individual with EVC2-related Ellis-van Creveld Syndrome?
Prognosis of affected individuals may be affected by whether the size of the chest restricts breathing after birth and by the presence and severity of heart defects. Individuals who survive infancy will likely have a normal life expectancy.