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ectodermal dysplasia Rapp-Hodgkin type; Rapp-Hodgkin syndrome; anhidrotic ectodermal dysplasia with cleft lip/palate (EDRH)
Pathology:
- combination of anhidrotic ectodermal dysplasia, cleft lip, & cleft palate
Genetics:
- associated with defects in TP63
Clinical manifestations:
- characteristic facies (narrow nose & small mouth)
- wiry, slow-growing, & uncombable hair
- sparse eyelashes & eyebrows
- obstructed lacrimal puncta/epiphora
- bilateral stenosis of external auditory canals
- microsomia
- hypodontia
- cone-shaped incisors
- enamel hypoplasia
- dystrophic nails
- cleft lip/cleft palate
General
genetic syndrome (multisystem disorder)
ectodermal dysplasia
Database Correlations
OMIM 129400
References
- OMIM :accession 129400
- UniProt :accession Q9H3D4