Hereditary epidermal appendage anomaly
MONDO:0021026An instance of epidermal appendage anomaly that is caused by a modification of the individual's genome.
Also known as: genetic epidermal appendage anomaly
45 clinical trials for this condition and its sub-types, 0 tagged with Hereditary epidermal appendage anomaly itself.
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Sub-types of Hereditary epidermal appendage anomaly
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Ectodermal dysplasia syndrome 3 trials · 45 incl. sub-types
120 sub-types
- Dyskeratosis congenita 12 trials Sub-types →
- CTSC-related disorder 0 trials · 11 incl. sub-types Sub-types →
- Cardiofaciocutaneous syndrome 7 trials Sub-types →
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 4 trials
- Incontinentia pigmenti 3 trials
- Ectodermal dysplasia WNT10A related 0 trials · 2 incl. sub-types Sub-types →
- Trichothiodystrophy 2 trials Sub-types →
- Cronkhite-Canada syndrome 1 trial
- Ellis-van Creveld syndrome 1 trial Sub-types →
- Cartilage-hair hypoplasia 1 trial Sub-types →
- Hypohidrotic ectodermal dysplasia 1 trial Sub-types →
- Trichorhinophalangeal syndrome 0 trials · 1 incl. sub-types Sub-types →
- ADULT syndrome 0 trials
- AREDYLD syndrome 0 trials
- Ackerman syndrome 0 trials
- Barber-Say syndrome 0 trials
- Bartsocas-Papas syndrome 1 0 trials
- Brunoni syndrome 0 trials
- Böök syndrome 0 trials
- CHIME syndrome 0 trials
- Clouston syndrome 0 trials
- Curly hair - acral keratoderma - caries syndrome 0 trials
- Dahlberg-Borer-Newcomer syndrome 0 trials
- Dubowitz syndrome 0 trials
- EEM syndrome 0 trials
- Fontaine progeroid syndrome 0 trials
- Fried's tooth and nail syndrome 0 trials
- GAPO syndrome 0 trials
- Ito hypomelanosis 0 trials
- Johnson neuroectodermal syndrome 0 trials
- KID syndrome 0 trials Sub-types →
- Lelis syndrome 0 trials
- Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 0 trials
- Marshall syndrome 0 trials
- Naegeli-Franceschetti-Jadassohn syndrome 0 trials
- Rapp-Hodgkin syndrome 0 trials
- Schinzel-Giedion syndrome 0 trials
- Stern-Lubinsky-Durrie syndrome 0 trials
- Teebi-Shaltout syndrome 0 trials
- Toriello-Lacassie-Droste syndrome 0 trials
- Acrofacial dysostosis, Weyers type 0 trials
- Alopecia - contractures - dwarfism - intellectual disability syndrome 0 trials
- Alves Castelo dos Santos syndrome 0 trials
- Amelocerebrohypohidrotic syndrome 0 trials
- Ameloonychohypohidrotic syndrome 0 trials
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 0 trials Sub-types →
- Anonychia with flexural pigmentation 0 trials
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma 0 trials
- Arthrogryposis-ectodermal dysplasia-other anomalies syndrome 0 trials
- Autosomal dominant palmoplantar keratoderma and congenital alopecia 0 trials
- Autosomal dominant trichoodontoonychodysplasia-syndactyly 0 trials
- Autosomal recessive palmoplantar keratoderma and congenital alopecia 0 trials
- Blepharocheilodontic syndrome 0 trials Sub-types →
- Cataract-hypertrichosis-intellectual disability syndrome 0 trials
- Cerebellar ataxia-ectodermal dysplasia syndrome 0 trials
- Chondroectodermal dysplasia with night blindness 0 trials
- Choroidal atrophy-alopecia syndrome 0 trials
- Circumscribed palmoplantar hypokeratosis 0 trials
- Cleft lip/palate-ectodermal dysplasia syndrome 0 trials
- Conductive deafness-ptosis-skeletal anomalies syndrome 0 trials
- Congenital hypotrichosis with juvenile macular dystrophy 0 trials
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome 0 trials
- Cranioectodermal dysplasia 0 trials Sub-types →
- Dermatoosteolysis, Kirghizian type 0 trials
- Dermatopathia pigmentosa reticularis 0 trials
- Dermo-odonto dysplasia 0 trials
- Dermotrichic syndrome 0 trials
- Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 0 trials
- Ectodermal dysplasia 13, hair/tooth type 0 trials
- Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 0 trials
- Ectodermal dysplasia 15, hypohidrotic/hair type 0 trials
- Ectodermal dysplasia 17 with or without limb malformations 0 trials
- Ectodermal dysplasia 5, hair/nail type 0 trials
- Ectodermal dysplasia Bartalos type 0 trials
- Ectodermal dysplasia alopecia preaxial polydactyly 0 trials
- Ectodermal dysplasia arthrogryposis diabetes mellitus 0 trials
- Ectodermal dysplasia blindness 0 trials
- Ectodermal dysplasia margarita type 0 trials
- Ectodermal dysplasia neurosensory deafness 0 trials
- Ectodermal dysplasia with natal teeth, Turnpenny type 0 trials
- Ectodermal dysplasia, trichoodontoonychial type 0 trials
- Ectodermal dysplasia-blindness syndrome 0 trials
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 0 trials
- Ectodermal dysplasia-sensorineural deafness syndrome 0 trials
- Ectodermal dysplasia-syndactyly syndrome 0 trials Sub-types →
- Epidermolysis bullosa simplex due to plakophilin deficiency 0 trials
- Focal facial dermal dysplasia 0 trials Sub-types →
- Gingival fibromatosis-hypertrichosis syndrome 0 trials
- Hidrotic ectodermal dysplasia, Christianson-Fourie type 0 trials
- Hidrotic ectodermal dysplasia, Halal type 0 trials
- Hypertrichosis cubiti-short stature syndrome 0 trials
- Hypertrichosis lanuginosa congenita 0 trials Sub-types →
- Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 0 trials
- Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 0 trials
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 0 trials
- Jones hersh yusk syndrome 0 trials
- Limb-mammary syndrome 0 trials
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies 0 trials
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 0 trials
- Oculodentodigital dysplasia 0 trials Sub-types →
- Oculoosteocutaneous syndrome 0 trials
- Oculotrichodysplasia 0 trials
- Odonto-onycho dysplasia-alopecia syndrome 0 trials
- Odonto-tricho-ungual-digito-palmar syndrome 0 trials
- Odontomicronychial dysplasia 0 trials
- Odontotrichomelic syndrome 0 trials
- Pili torti-onychodysplasia syndrome 0 trials
- Pilodental dysplasia-refractive errors syndrome 0 trials
- Pure hair and nail ectodermal dysplasia 0 trials Sub-types →
- Scalp-ear-nipple syndrome 0 trials
- Taurodontia-absent teeth-sparse hair syndrome 0 trials
- Tooth and nail syndrome 0 trials
- Tricho-dento-osseous syndrome 0 trials
- Tricho-oculo-dermo-vertebral syndrome 0 trials
- Tricho-retino-dento-digital syndrome 0 trials
- Trichodental syndrome 0 trials
- Trichodermodysplasia-dental alterations syndrome 0 trials
- Trichodysplasia-amelogenesis imperfecta syndrome 0 trials
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 0 trials
- Trichoodontoonychial dysplasia 0 trials
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Hereditary sebaceous gland anomaly 0 trials
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Isolated hyperchlorhidrosis 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…
Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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New drug combo aims to make bone marrow transplants safer for kids
Disease control OngoingThis pilot study tests a fludarabine-based drug regimen to prepare children with bone marrow failure syndromes for a bone marrow transplant from a matched sibling donor. The goal is to help the donor cells successfully take root while reducing serious side effects. The study incl…
Early phase 1 • Sponsor: Children's Hospital of Philadelphia • Aim: Disease control
Last updated Jun 27, 2026 12:39 UTC
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New hope for ALS patients: experimental drug CNM-Au8 now available through expanded access
Disease control Expanded access (paused)This program provides early access to an experimental drug called CNM-Au8 for people with amyotrophic lateral sclerosis (ALS), a progressive nerve disease. Participants must be 18 or older and have a confirmed ALS diagnosis. The goal is to offer treatment to those who cannot join…
Sponsor: Clene Nanomedicine • Aim: Disease control
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
Disease control OngoingThis study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…
Phase 2 • Sponsor: Andrew Dauber • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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Desperate patient gets experimental stem cells for rare nerve disease
Disease control Expanded access (ended)This study provides an experimental stem cell treatment (HB-adMSCs) to an 83-year-old man with Primary Lateral Sclerosis, a rare nerve disease that causes progressive muscle weakness. The patient's own banked stem cells are used, aiming to slow the disease. This is a single-patie…
Sponsor: Hope Biosciences Research Foundation • Aim: Disease control
Last updated Jun 27, 2026 07:52 UTC