Hypohidrotic ectodermal dysplasia

Also known as: Christ–Siemens–Touraine syndrome

Hypotrichosis, hypodontia and hypohidrosis.

Medical specialty: Dermatology
Subspecialty: Dermatology / Ectodermal dysplasias
Sex & age distribution: Male: affected, X-linked most common; Female: carriers, mild; Children: yes, from infancy
Gene(s) involved: EDA, EDAR, EDARADD, NFKBIA, WNT10A

Etiology & mechanism

Defective ectodysplasin A signaling in ectodermal appendages.

Gene(s) involved (5)

EDAEDAREDARADDNFKBIAWNT10A

Symptoms & signs (7)

dry skinheat intolerancehypodontiahypohidrosisperiorbital pigmentationsaddle nosesparse hair

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.