Dermatology · Dermatology / Ectodermal dysplasias
Hypohidrotic ectodermal dysplasia
also: Christ–Siemens–Touraine syndrome
Hypotrichosis, hypodontia and hypohidrosis.
- 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
- Alternative names & eponyms
- Christ–Siemens–Touraine syndrome
Etiology & mechanism
Defective ectodysplasin A signaling in ectodermal appendages.
Gene(s) involved (5)
Symptoms & signs (7)
In plain terms, someone with Hypohidrotic ectodermal dysplasia may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Ectrodactyly–ectodermal dysplasia–clefting syndrome
hypodontia, hypohidrosis, sparse hair
3 shared
Rapp–Hodgkin syndrome
dry skin, hypodontia, hypohidrosis
2 shared
Cardiofaciocutaneous syndrome
dry skin, sparse hair
2 shared
Hay–Wells syndrome
hypodontia, sparse hair
1 shared
Bazex–Dupré–Christol syndrome
hypohidrosis
1 shared
Langer–Giedion syndrome
sparse hair
1 shared
Laron syndrome
sparse hair
1 shared
Marshall syndrome
saddle nose
1 shared
Naegeli–Franceschetti–Jadassohn syndrome
hypohidrosis
1 shared
Nicolaides–Baraitser syndrome
sparse hair
Shares genes with
None.
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