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

More general terms

• genetic syndrome (multisystem disorder)
• ectodermal dysplasia

Database

• OMIM: https://mirror.omim.org/entry/129400