Chondroectodermal dysplasia
Synonyms
2
Overview
Chondroectodermal dysplasia is an inherited disorder of bone growth that results in short stature (dwarfism). People with this condition have particularly short forearms and lower legs and short ribs. Ellis-van Creveld syndrome is also characterized by the presence of extra fingers and toes (polydactyly), unusually formed nails and teeth, and heart defects.
Symptoms
* Small stature * Disproportionate skeleton * Irregularly short extremities * Extra fingers * Extra toes
Causes
Ellis–van Creveld syndrome has an autosomal recessive inheritance. The EVC gene has been mapped to chromosome band 4p16 using linkage analysis of 9 interrelated Amish pedigrees and 3 unrelated families from Mexico, Ecuador, and Brazil.2 A 992 amino acid protein encoded by this gene is predicted to contain a leucine zipper domain, 3 putative nuclear localization signals, and a putative transmembrane domain. Mutations in the EVC gene were identified in patients with Ellis–van Creveld syndrome.
Prognosis
Prenatal ultrasound is an accurate means of identifying the presence of a skeletal dysplasia, however it should be borne in mind that making a specific diagnosis remains difficult. Gaffney and colleagues recently reported a review of 35 cases of skeletal dysplasia diagnosed prenatally. Overall, the suggested prenatal diagnosis was correct in 31 per cent of cases, however the suggested prognosis was correct in 95 per cent.