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Etymology: R.J. Hay, British dermatologist, 20th century; Robert Stuart Wells, British dermatologist, 20th century
an autosomal-dominant syndrome of ectodermal dysplasia, cleft lip and palate, and ankyloblepharon. It is also characterized by hypodontia, palmar and plantar keratoderma, partial anhidrosis, sparse wiry hair, and sometimes otological defects. Also called AEC syndrome, ankyloblepharon-ectodermal dysplasia-clefting syndrome.
ankyloblepharon-ectodermal defects-cleft lip/palateAn autosomal dominant condition (OMIM:106260) characterised by congenital ectodermal dysplasia with sparse coarse and wiry hair, dystrophic nails, slight hypohidrosis, scalp and skin erosion, ankyloblepharon filiform adnatum, maxillary hypoplasia, hypodontia, and cleft lip/palate.
Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding transcriptional regulator of epithelial morphogenesis and required for limb formation from the apical ectodermal ridge.