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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New transplant method aims to reduce complications in bone marrow failure patients
Disease control OngoingThis study tests a stem cell transplant method for people with acquired or inherited bone marrow failure. Donor stem cells are specially processed to remove certain immune cells, which may lower the risk of graft rejection and graft-versus-host disease. The goal is to see if this…
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Last updated Jun 27, 2026 14:00 UTC
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New drug combo aims to make bone marrow transplants safer for kids
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Early phase 1 • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
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Last updated Jun 27, 2026 12:04 UTC
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New transplant approach aims to cure blood failure without harming lungs or liver
Disease control OngoingThis study tests a bone marrow transplant method that avoids harsh chemotherapy and radiation for people with dyskeratosis congenita, a genetic disorder causing bone marrow failure. The goal is to fix the blood system without worsening lung or liver disease or raising cancer risk…
Phase 2 • Sponsor: Boston Children's Hospital • Aim: Disease control
Last updated Jun 27, 2026 12:00 UTC
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New drug aims to help kids with rare genetic short stature grow taller
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Phase 2 • Sponsor: Andrew Dauber • Aim: Disease control
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Desperate patient gets experimental stem cells for rare nerve disease
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