Chondroectodermal dysplasia

Chondroectodermal dysplasia


Chondroectodermal dysplasia (Ellis-van Creveld syndrome) is an autosomal recessive disorder characterized by mild to moderate limb shortening, post axial polydactyly and congenital heart disease. There is a high incidence in Amish communities. One third of the affected individuals die in the neonatal period because of cardiopulmonary disease. Survivors who reach adulthood have short stature but normal intelligence. Chondroectodermal dysplasia appears to fall within a spectrum of disease which includes asphyxiating thoracic dysplasia and renal hepatic-pancreatic dysplasia. Synonyms for this disorder include chondrodysplasia ectodermica, chondrodysplasia tridermica and mesoectodermal dysplasia.


The ectodermal changes include abnormalities of teeth, nails and hair. Sonographically the skull and spine are normal. The thorax is long and narrow with mild rib shortening. The long bones are short, heavy and mildly bowed (centrifugal shortening). Polydactyly is a constant finding (hands 99%, feet 25%). The proximal femoral epiphysis is prematurely ossified. The metaphyses are mildly rounded. The proximal end of the ulna and distal end of the radius are enlarged. The fibula is short. The iliac wings are hypoplastic and flared (trident-shaped). Congenital heart disease is present in 60% of the cases, with atrial septal defects (ASD) and atrio-ventricular septal defects being the most common abnormalities. There is also dysplasia of ectodermal derivatives, such as hypoplastic or absent nails, neonatal teeth, partial anodontia and poor hair growth.

Differential Diagnosis

The prenatal differential diagnosis between asphyxiating thoracic dysplasia and chondroectodermal dysplasia may be practically impossible in atypical cases. In the latter polydactyly is almost always present and congenital heart disease is encountered in 60 % of the cases. In short rib-polydactyly syndromes micromelia and severe rib shortening is seen.

Sonographic Features

Mild to moderate limb shortening (rhizo-mesomelia)

Femoral bowing

Premature ossification of proximal femoral epiphysis

Short fibula

Postaxial polydactyly

Congenital heart disease – with ASD most common

Narrow thorax with mildly shortened ribs

Associated Syndromes


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