Comment: | The Ellis-van Creveld Syndrome Website is predominantly for parents who have discovered that their unborn or newborn baby has Ellis-van Creveld (EvC) Syndrome. Much of the information on the internet was overly clinical, and this site, created by the mother of a child with EvC, aims to offer access to information on a more human level. There is also an on-line support group at http://groups.yahoo.com/group/EvCParents.
EvC is a rare autosomal recessive genetic condition (meaning both parents have to carry the gene) resulting in short stature, postaxial polydactyly (meaning extra fingers on the pinky side of the hands), short arms and legs in relation to the trunk, short ribs and small lungs. Fifty to sixty percent of individuals have congenital heart defects, usually of a type that can be fixed by planned surgery, but about a third of children born with EvC die in infancy due to their heart / lung complications. |
