Ellis-Van Creveld syndrome is a rare genetic disorder characterized by short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. Motor development and intelligence are normal. This disorder is inherited as an autosomal recessive condition.

Individuals with Ellis-Van Creveld syndrome typically have arms and legs that are abnormally short while the head and trunk are normal. Extra fingers (polydactyly) are present in all patients with this condition and both hands are usually affected. Ectodermal abnormalities include abnormal development of hair, nails and teeth.

More than fifty percent of the patients with Ellis-Van Creveld syndrome are born with malformations of the heart. The most common heart defect is an abnormal opening in the wall between the two upper heart chambers (atrial septal defect). Other types of heart defects have also been reported including ventricular septal defects and patent ductus arteriosis.

Some boys with this condition have been described with undescended testicles (cryptorchidism) or an abnormally located opening of the urine canal in the penis (epispadias). Abnormalities in the chest wall, spine and respiratory system have also been reported.

Ellis-Van Creveld syndrome is associated with abnormalities (mutations) in two genes on the number 4 chromosome called EVC and EVC2. These gene mutations result in the production of abnormally small EVC and EVC2 proteins. Some affected individuals do not have mutations in these genes, so it is likely that other unknown genes are also responsible for EVC.

Ellis-Van Creveld syndrome is inherited as an autosomal recessive genetic condition. Recessive genetic disorders occur when an individual inherits two copies of an abnormal gene for the same trait, one from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease. Some individuals who carry one copy of the EVC or EVC2 gene have a condition called Weyers acrofacial dysostosis, described in the Related Disorders section of this report. The risk for two carrier parents to both pass the defective gene and have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry a number of abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

It is often necessary to treat respiratory distress shortly after birth that results from a narrow chest and/or heart failure. Natal teeth should be removed because they can interfere with feeding.

The treatment of Ellis-Van Creveld syndrome is directed toward the specific symptoms that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, such as pediatricians, surgeons, cardiologists, dentists, pulmonologists, orthopedists, urologists, physical and occupational therapists and/or other health care professionals.

Genetic counseling is recommended for affected individuals and their families.

Ellis-Van Creveld syndrome occurs in many ethnic groups throughout the world and effects males and females in equal numbers. This condition has been reported in approximately 150 individuals. It is more common in the Old Order Amish population of Lancaster County, Pennsylvania and in the native population of Western Australia.