Cranioectodermal Dysplasia

Abstract

Cranioectodermal dysplasia (CED) is a disorder characterized by craniosynostosis (mainly sagittal) and facial, ectodermal, and skeletal anomalies. Craniofacial features include dolichocephaly; sparse, fine, slow-growing hair; epicanthal folds; hypodontia and/or microdontia; and taurodontism. Frontal bossing and hypertelorism are further features. Retinal photoreceptor dystrophy has been described in childhood. Skeletal anomalies include rhizomelic shortening of the limbs, most pronounced in the upper limbs; brachydactyly with stubby digits; 5th-finger clinodactyly; symphalangism; soft tissue syndactyly of the fingers; joint laxity; narrow thorax; and pectus excavatum. Radiographic findings of the hand show short phalanges, in particular hypoplasia of the distal phalanges with large corresponding epiphyses. Radiographic abnormalities of the long bones involve metaphyseal widening with flattened epiphyses. The capital femoral epiphysis ossifies late. The fibula is short, and the semilunar notches of the ulna are small. Height is between the 3rd and 10th percentiles. Chronic renal failure may occur as a result of tubulointerstitial nephropathy.