Rapp-Hodgkin syndrome

An autosomal dominant condition (OMIM:129400) characterised by anhidrotic ectodermal dysplasia, cleft lip and palate, and accompanied by a characteristic facies (narrow nose and small mouth); wiry, slow-growing, uncombable hair; sparse eyelashes and eyebrows; obstructed lacrimal puncta/epiphora; bilateral stenosis of external auditory canals; microsomia; hypodontia; cone-shaped incisors; enamel hypoplasia; and dystrophic nails.
Molecular pathology
Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding regulator of epithelial morphogenesis and required for limb formation from the apical ectodermal ridge.

Hodgkin,

W.E., 20th century U.S. pediatrician. Rapp-Hodgkin syndrome - see under Rapp

Rapp,

R.S., Rapp-Hodgkin syndrome - autosomal dominant inheritance, with cleft palate and lip deformities. Synonym(s): anhidrotic ectodermal dysplasia

单词	rapp-hodgkin syndrome
释义	Rapp-Hodgkin syndrome Rapp-Hodgkin syndrome An autosomal dominant condition (OMIM:129400) characterised by anhidrotic ectodermal dysplasia, cleft lip and palate, and accompanied by a characteristic facies (narrow nose and small mouth); wiry, slow-growing, uncombable hair; sparse eyelashes and eyebrows; obstructed lacrimal puncta/epiphora; bilateral stenosis of external auditory canals; microsomia; hypodontia; cone-shaped incisors; enamel hypoplasia; and dystrophic nails. Molecular pathology Caused by defects of TP63, which encodes a p53 transcription factor that acts as a sequence-specific DNA-binding regulator of epithelial morphogenesis and required for limb formation from the apical ectodermal ridge. Hodgkin, W.E., 20th century U.S. pediatrician. Rapp-Hodgkin syndrome - see under Rapp Rapp, R.S., Rapp-Hodgkin syndrome - autosomal dominant inheritance, with cleft palate and lip deformities. Synonym(s): anhidrotic ectodermal dysplasia
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