Ellis Van Creveld Syndrome, also known as chondroectodermal dysplasia, is a rare genetic disorder characterized by a combination of skeletal abnormalities, short stature, polydactyly, and congenital heart defects. This syndrome is named after Richard W. B. Ellis and Simon van Creveld, the two physicians who first described it in 1940.
The main clinical features of Ellis Van Creveld Syndrome include disproportionate short stature, where individuals have a shorter body trunk compared to their limbs. Additionally, affected individuals often display various skeletal abnormalities like fusion of certain bones in the hands or feet, short fingers and toes, and extra fingers or toes (polydactyly). Another hallmark feature is the presence of dental abnormalities, including missing or misshapen teeth.
Congenital heart defects are commonly observed in individuals with Ellis Van Creveld Syndrome, comprising abnormalities in the structure or function of the heart. The most common heart defects associated with this syndrome are a hole in the wall between the two upper chambers of the heart (atrial septal defect) and a hole between the two lower chambers (ventricular septal defect). These cardiac anomalies can vary in severity and may require surgical intervention.
Ellis Van Creveld Syndrome follows an autosomal recessive inheritance pattern, meaning that an affected individual has two copies of the mutated gene, one inherited from each parent who themselves are carriers.
Management of Ellis Van Creveld Syndrome is aimed at addressing the specific symptoms and providing support for affected individuals and their families. A multidisciplinary approach involving medical specialists, orthopedic interventions, and other supportive measures can significantly improve the quality of life for individuals with this syndrome.
