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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.


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


Rapp-Hodgkin syndrome - autosomal dominant inheritance, with cleft palate and lip deformities. Synonym(s): anhidrotic ectodermal dysplasia
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Prosthetic rehabili- tation of a child with Rapp-Hodgkin syndrome. J Dent Child 2012; 79(2):115-19.
Lamartine[1] in 2003 has described various well defined ectodermal dysplasia as Hypohidrotic (anhidrotic), Hidrotic (Clouston'syndrome), Ectrodactyly-Ectodermal dysplasia-cleft syndrome (EEC), Rapp-Hodgkin Syndrome, Hay-Wells syndrome or ankyloblepharon ectodermal dysplasia.
There are a number of syndromes that must be considered within the differential diagnosis of clinical symptoms described in this patient, including Rapp-Hodgkin syndrome, Rosselli-Gulienetti syndrome, Hay-Wells syndrome, Bowen-Armstrong syndrome, Goltz-Gorlin syndrome, Odontotrichomelic hypohidrotic dysplasia, ADULT-syndrome, EEM syndrome, ODD syndrome, ECP syndrome, Roberts syndrome, Herrmann syndrome, and syndrome of Fontaine.