Table 2.

Select Features of Cranioectodermal Dysplasia

FrequencyFeatures
Frequent (>75%) Characteristic facial features (frontal bossing, low-set/simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip)
Brachydactyly
Dolichocephaly & sagittal craniosynostosis
Shortening/bowing of proximal bones (most often humeri)
Short stature
Common (50%-75%) Narrow thorax w/dysplastic ribs & pectus excavatum
Dental abnormalities (malformed, widely spaced, &/or hypodontia)
Sparse &/or thin hair
Nephronophthisis
Developmental delay (most often motor development)
Less common (25%-50%) Joint laxity
Liver disease (hepatic fibrosis, cirrhosis, &/or hepatomegaly)
Syndactyly
Polydactyly
Abnormal nails
Skin laxity
Recurrent lung infections
Bilateral inguinal hernias
Occasional to infrequent (<25%) Retinal dystrophy
Hip dysplasia
Cystic hygroma
Congenital heart defect
Intellectual disability

From: Cranioectodermal Dysplasia

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