http://gait.aidi.udel.edu/educate/chnect.htmhttp://gait.aidi.udel.edu/educate/chnect.htm
What is Chondroectodermal Dysplasia?
Distal limb shortening
Postaxial polydactyly
Structural cardiac defects
Autosomal recessive
Chondroectodermal dysplasia is also known as the Ellis-van Creveld Syndrome. This disorder is an autosomal recessive skeletal disorder that results in short-limbed disproportionate dwarfism. First described by Ellis and van Creveld in 1940, chondroectodermal is used to describe the types of tissues involved in the disorder. The symptoms of this dysplasia is bilateral manual polydactyly, acromelic dwarfism, dysplasia affecting the nails, teeth and hair and congenital heart malformations. It is important to identify this dysplasia early on so that treatment can occur as soon as possible. Oral deformations are also a characteristic for this particular dysplasia. Sometimes dental surgeons can identify this disease and refer the case to a cardiologist and orthopedician for corrective surgeries.