Ellis-van Creveld syndrome (EVC) is an inherited disorder affecting cartilage formation, leading to distinct physical characteristics.
Affected individuals commonly exhibit short stature (dwarfism), with shortened arms and legs, along with a narrow chest due to shortened ribs. Other features include abnormally formed fingernails and toenails, dental abnormalities, and polydactyly (extra fingers). Around 60% of those affected are born with heart defects. Some aspects of the syndrome, such as extra fingers, bone shortening, or heart issues, can be detected before birth through ultrasound. While there is no cure for EVC, treatments focus on managing symptoms. The prognosis depends on factors such as chest size affecting breathing after birth and the presence and severity of heart defects. Individuals who survive infancy generally have a normal life expectancy.
EVC is caused by pathogenic (disease-causing) variants in the EVC or EVC2 genes and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Other names for this condition are chondroectodermal dysplasia and Ellis-van Creveld dysplasia.
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Revised October 2023
