Ectodermal dysplasia syndrome
MONDO:0019287The 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.
Also known as: ectodermal dysplasia, ectodermal dysplasia (select examples)
45 clinical trials for this condition and its sub-types, 3 tagged with Ectodermal dysplasia syndrome itself.
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Sub-types of Ectodermal dysplasia syndrome
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Dyskeratosis congenita 12 trials
16 sub-types
- DKC1-related disorder 0 trials · 3 incl. sub-types Sub-types →
- Revesz syndrome 2 trials
- Dyskeratosis congenita and related telomere biology disorder 1 trial Sub-types →
- Autosomal recessive dyskeratosis congenita 4 0 trials
- Dyskeratosis congenita, autosomal dominant 1 0 trials
- Dyskeratosis congenita, autosomal dominant 2 0 trials
- Dyskeratosis congenita, autosomal dominant 3 0 trials
- Dyskeratosis congenita, autosomal dominant 4 0 trials
- Dyskeratosis congenita, autosomal dominant 6 0 trials
- Dyskeratosis congenita, autosomal recessive 1 0 trials
- Dyskeratosis congenita, autosomal recessive 2 0 trials
- Dyskeratosis congenita, autosomal recessive 3 0 trials
- Dyskeratosis congenita, autosomal recessive 6 0 trials
- Dyskeratosis congenita, autosomal recessive 7 0 trials
- Dyskeratosis congenita, autosomal recessive 8 0 trials
- Dyskeratosis congenita, digenic 0 trials
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CTSC-related disorder 0 trials · 11 incl. sub-types
3 sub-types
- Periodontitis, aggressive 1 6 trials
- Papillon-Lefevre disease 5 trials
- Haim-Munk syndrome 0 trials
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Cardiofaciocutaneous syndrome 7 trials
4 sub-types
- Cardiofaciocutaneous syndrome 1 1 trial
- Cardiofaciocutaneous syndrome 2 0 trials
- Cardiofaciocutaneous syndrome 3 0 trials
- Cardiofaciocutaneous syndrome 4 0 trials
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Incontinentia pigmenti 3 trials
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Trichothiodystrophy 2 trials
7 sub-types
- Photosensitive trichothiodystrophy 0 trials Sub-types →
- Trichothiodystrophy 4, nonphotosensitive 0 trials
- Trichothiodystrophy 5, nonphotosensitive 0 trials
- Trichothiodystrophy 6, nonphotosensitive 0 trials
- Trichothiodystrophy 7, nonphotosensitive 0 trials
- Trichothiodystrophy 8, nonphotosensitive 0 trials
- Trichothiodystrophy 9, nonphotosensitive 0 trials
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Ectodermal dysplasia WNT10A related 0 trials · 2 incl. sub-types
3 sub-types
- Odonto-onycho-dermal dysplasia 2 trials
- Schöpf-Schulz-Passarge syndrome 0 trials
- Tooth agenesis, selective, 4 0 trials
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Cronkhite-Canada syndrome 1 trial
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Ellis-van Creveld syndrome 1 trial
1 sub-type
- Jeune syndrome situs inversus 0 trials
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Cartilage-hair hypoplasia 1 trial
1 sub-type
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Trichorhinophalangeal syndrome 0 trials · 1 incl. sub-types
2 sub-types
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ADULT syndrome 0 trials
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AREDYLD syndrome 0 trials
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Ackerman syndrome 0 trials
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Barber-Say syndrome 0 trials
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Bartsocas-Papas syndrome 1 0 trials
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Brunoni syndrome 0 trials
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Böök syndrome 0 trials
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CHIME syndrome 0 trials
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Clouston syndrome 0 trials
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Dahlberg-Borer-Newcomer syndrome 0 trials
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Dubowitz syndrome 0 trials
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EEM syndrome 0 trials
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Fontaine progeroid syndrome 0 trials
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Fried's tooth and nail syndrome 0 trials
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GAPO syndrome 0 trials
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Ito hypomelanosis 0 trials
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Johnson neuroectodermal syndrome 0 trials
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KID syndrome 0 trials
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Lelis syndrome 0 trials
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Marshall syndrome 0 trials
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Rapp-Hodgkin syndrome 0 trials
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Schinzel-Giedion syndrome 0 trials
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Stern-Lubinsky-Durrie syndrome 0 trials
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Teebi-Shaltout syndrome 0 trials
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Toriello-Lacassie-Droste syndrome 0 trials
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Acrofacial dysostosis, Weyers type 0 trials
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Alves Castelo dos Santos syndrome 0 trials
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Amelocerebrohypohidrotic syndrome 0 trials
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Ameloonychohypohidrotic syndrome 0 trials
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1 sub-type
- Rosselli-Gulienetti syndrome 0 trials
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Anonychia with flexural pigmentation 0 trials
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Blepharocheilodontic syndrome 0 trials
3 sub-types
- Martinez Monasterio Pinheiro syndrome 0 trials
- Blepharocheilodontic syndrome 1 0 trials
- Blepharocheilodontic syndrome 2 0 trials
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Choroidal atrophy-alopecia syndrome 0 trials
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Cranioectodermal dysplasia 0 trials
7 sub-types
- Cranioectodermal dysplasia 1 0 trials
- Cranioectodermal dysplasia 2 0 trials
- Cranioectodermal dysplasia 3 0 trials
- Cranioectodermal dysplasia 4 0 trials
- Cranioectodermal dysplasia 5 0 trials
- Cranioectodermal dysplasia 6 0 trials
- Short-rib thoracic dysplasia 16 with or without polydactyly 0 trials
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Dermatoosteolysis, Kirghizian type 0 trials
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Dermatopathia pigmentosa reticularis 0 trials
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Dermo-odonto dysplasia 0 trials
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Dermotrichic syndrome 0 trials
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Ectodermal dysplasia Bartalos type 0 trials
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Ectodermal dysplasia blindness 0 trials
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Ectodermal dysplasia margarita type 0 trials
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2 sub-types
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Focal facial dermal dysplasia 0 trials
3 sub-types
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Hypertrichosis lanuginosa congenita 0 trials
2 sub-types
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Jones hersh yusk syndrome 0 trials
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Limb-mammary syndrome 0 trials
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Oculodentodigital dysplasia 0 trials
1 sub-type
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Oculoosteocutaneous syndrome 0 trials
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Oculotrichodysplasia 0 trials
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Odontomicronychial dysplasia 0 trials
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Odontotrichomelic syndrome 0 trials
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Pili torti-onychodysplasia syndrome 0 trials
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4 sub-types
- Ectodermal dysplasia 4, hair/nail type 0 trials
- Ectodermal dysplasia 6, hair/nail type 0 trials
- Ectodermal dysplasia 7, hair/nail type 0 trials
- Ectodermal dysplasia 9, hair/nail type 0 trials
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Scalp-ear-nipple syndrome 0 trials
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Tooth and nail syndrome 0 trials
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Tricho-dento-osseous syndrome 0 trials
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Tricho-retino-dento-digital syndrome 0 trials
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Trichodental syndrome 0 trials
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Trichoodontoonychial dysplasia 0 trials
Most studied deeper sub-types
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Cancer drug tested against deadly infant heart disease
Disease control Not yet recruitingResearchers are testing whether trametinib, an FDA-approved cancer drug, can help infants with RASopathies who have a severe, life-threatening heart condition called hypertrophic cardiomyopathy. The trial enrolls about 25 babies with a confirmed genetic diagnosis. Participants re…
Phase 3 • Sponsor: Carelon Research • Aim: Disease control
Last updated Sep 16, 2026 00:00 UTC
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New DNA sequencer could make genetic testing cheaper and faster
Diagnosis Not yet recruitingThis study compares a new DNA sequencing platform (MGI) against the current standard (Illumina) for diagnosing hereditary cancers like breast and ovarian cancer, Lynch syndrome, and intestinal polyposis. Researchers will analyze 248 patient samples using both platforms to see if …
Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS • Aim: Diagnosis
Last updated Jun 26, 2026 14:56 UTC
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Could you help scientists unlock genetic cancer secrets?
Knowledge-focused Not yet recruitingThis study screens up to 1,000 people with personal or family histories of certain cancers to see if they qualify for ongoing genetics research at the National Cancer Institute. Participants fill out a 15-20 minute online survey about their health and family history. No treatment…
Sponsor: National Cancer Institute (NCI) • Aim: Knowledge-focused
Last updated Sep 20, 2026 00:00 UTC