Ellis Van Crefeld syndrome

Ellis van Crefeld syndrome (EVC) describes ectodermal and chondral dysplasia characterized by dwarfism, polydactyly, short ribs, hematopoiesis, and ectodermal defects.

While the prevalence of the disease is unknown, an accumulation has been found in the Amishen community and Aboriginies in Australia.

Patients suffer from polydactyly, short stature, short ribs and dysplastic fingernails and teeth after birth. Especially an atrial septal defect, but also other heart defects occur in about 60% of those affected. The polydactyly is usually on both sides of the hands, in 10% of cases, the feet are affected.

Inheritance is autosomal recessive. The cause is mutations in the EVC1 and EVC2 gene at the locus 4p16, where they are head to head.

The prognosis depends on the possible heart defects, the narrowing of the thorax and the resulting breathing problems.