Rapp-Hodgkin syndrome

(redirected from EDRH)
Also found in: Acronyms.

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