ectodermal dysplasia syndrome
Findings
No curated finding names ectodermal dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures.
Definition from the Mondo Disease Ontology (MONDO:0019287), read 2026-09-29. CC BY 4.0.
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (121)
- Ackerman syndrome
- acrofacial dysostosis, Weyers type
- ADULT syndrome
- alopecia - contractures - dwarfism - intellectual disability syndrome
- amelocerebrohypohidrotic syndrome
- ameloonychohypohidrotic syndrome
- ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- anonychia with flexural pigmentation
- AREDYLD syndrome
- autosomal dominant palmoplantar keratoderma and congenital alopecia
- autosomal recessive palmoplantar keratoderma and congenital alopecia
- Barber-Say syndrome
- Bartsocas-Papas syndrome 1
- blepharocheilodontic syndrome
- Böök syndrome
- cartilage-hair hypoplasia
- cataract-hypertrichosis-intellectual disability syndrome
Other names
3 names
Resolves to: ectodermal dysplasia syndrome
- Also called
- ectodermal dysplasiaectodermal dysplasia (select examples)Ectodermal Dysplasias