Ellis-van creveld syndrome (chondroectodermal dysplasia)

General: Autosomal recessive inhe 656d36g ritance; occurs in the Amish; associated with de novo chromosomal abnormality: deletion of 12 (p11.21p12.2).

Ocular: Esotropia; iris coloboma; congenital cataract.

Clinical: Bilateral polydactyly; short and plump limbs; genu valgum; talipes (equinovarus, calcaneovalgus); thoracic constriction; fusion of middle part of upper lip to maxillary gingival margin; dental anomalies: number, shape, spacing; congenital heart defect in about 50% of patients; dystrophic fingernails; genital anomalies; mild mental retardation; short stature; hypoplastic hair and skin; oligodontia; small thoracic cage; hypoplastic pelvis; cone-shaped epiphyses of hands.

Ellis RWB, van Creveld S. A syndrome characterized by polydactyly, chondro-dysplasia and congenital morbus cordis. Arch Dis Child 1940; 15:65.

Nagai T, et al. Del (12) (p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J Med Genet 1995; 55:16-l8.

Wynne-Davies R. Genetics and malformations of the hand. Hand 1971; 3:184-l92.