ORPHA:79373
Ectodermal dysplasia syndrome
Synonyms: Ectodermal dysplasia
- Type
- Category
- Group
- Group of disorders
- Age of onset
- Infancy, Neonatal
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia syndrome | Ectodermal dysplasia |
| fr | Dysplasie ectodermique | Syndrome de dysplasie ectodermique |
| de | Ektodermale Dysplasie | ED |
| es | Síndrome de displasia ectodérmica | |
| it | Sindrome da displasia ectodermica | |
| nl | Ectodermale dysplasiesyndroom | |
| pt | Displasia ectodérmica sindrómica | |
| pl | Zespół dysplazji ektodermalnej | = en |
| cs | Ektodermální dysplázie | Syndrom ektodermální dysplázie |
| uk | Синдром ектодермальної дисплазії | Ектодермальна дисплазія |
| zh | 外胚层发育不良综合征 | 外胚层发育不良 |
| tr | Ektodermal displazi sendromu | Ektodermal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD27.0 | E | specific | validated |
| MONDO | 0019287 | E | validated | |
| MONDO | 19287 | E | validated | |
| MeSH | D004476 | E | validated | |
| UMLS | C0013575 | E | validated | |
| GARD | 6317 | E | validated | |
| MedDRA | 10010452 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79362Epidermal appendage anomaly
rare skin diseases - ORPHA:183447Genetic epidermal appendage anomaly
rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
Children (114):
- ORPHA:1133AREDYLD syndrome
- ORPHA:952Acrofacial dysostosis, Weyers type
- ORPHA:1005Alopecia-contractures-dwarfism-intellectual disability syndrome
- ORPHA:1028Amelo-onycho-hypohidrotic syndrome
- ORPHA:1946Amelocerebrohypohidrotic syndrome
- ORPHA:1071Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ORPHA:69125Anonychia with flexural pigmentation
- ORPHA:3200Arthrogryposis-ectodermal dysplasia syndrome
- ORPHA:1010Autosomal dominant palmoplantar keratoderma and congenital alopecia
- ORPHA:1366Autosomal recessive palmoplantar keratoderma and congenital alopecia
- ORPHA:1231Barber-Say syndrome
- ORPHA:1234Bartsocas-Papas syndrome
- ORPHA:1997Blepharo-cheilo-odontic syndrome
- ORPHA:1262Böök syndrome
- ORPHA:1401CHAND syndrome
- ORPHA:3474CHIME syndrome
- ORPHA:1340Cardiofaciocutaneous syndrome
- ORPHA:175Cartilage-hair hypoplasia
- ORPHA:65282Carvajal syndrome
- ORPHA:1375Cataract-hypertrichosis-intellectual disability syndrome
- ORPHA:1174Cerebellar ataxia-ectodermal dysplasia syndrome
- ORPHA:319195Chondroectodermal dysplasia with night blindness
- ORPHA:1433Choroidal atrophy-alopecia syndrome
- ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome
- ORPHA:3236Conductive deafness-ptosis-skeletal anomalies syndrome
- ORPHA:708019Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome
- ORPHA:1484Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- ORPHA:3194Corneodermatoosseous syndrome
- ORPHA:1515Cranioectodermal dysplasia
- ORPHA:2930Cronkhite-Canada syndrome
- ORPHA:307766Curly hair-acral keratoderma-caries syndrome
- ORPHA:1563Dahlberg-Borer-Newcomer syndrome
- ORPHA:3220Deafness-enamel hypoplasia-nail defects syndrome
- ORPHA:3231Deafness-onychodystrophy syndrome
- ORPHA:1657Dermatoosteolysis, Kirghizian type
- ORPHA:86920Dermatopathia pigmentosa reticularis
- ORPHA:1660Dermoodontodysplasia
- ORPHA:99688Dermotrichic syndrome
- ORPHA:235Dubowitz syndrome
- ORPHA:98609EEC syndrome and related disorders
- ORPHA:1897EEM syndrome
- ORPHA:708036Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth
- ORPHA:69083Ectodermal dysplasia with natal teeth, Turnpenny type
- ORPHA:708043Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples
- ORPHA:1818Ectodermal dysplasia, trichoodontoonychial type
- ORPHA:1806Ectodermal dysplasia-blindness syndrome
- ORPHA:247827Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
- ORPHA:1812Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- ORPHA:708014Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment syndrome
- ORPHA:247820Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
- ORPHA:1883Ectodermal dysplasia-sensorineural deafness syndrome
- ORPHA:158668Ectodermal dysplasia-skin fragility syndrome
- ORPHA:289Ellis-Van Creveld syndrome
- ORPHA:2092Focal dermal hypoplasia
- ORPHA:398166Focal facial dermal dysplasia
- ORPHA:99672Fried's tooth and nail syndrome
- ORPHA:2067GAPO syndrome
- ORPHA:2026Gingival fibromatosis-hypertrichosis syndrome
- ORPHA:2108Hallermann-Streiff syndrome
- ORPHA:189Hidrotic ectodermal dysplasia
- ORPHA:1808Hidrotic ectodermal dysplasia, Christianson-Fourie type
- ORPHA:1809Hidrotic ectodermal dysplasia, Halal type
- ORPHA:2220Hypertrichosis cubiti
- ORPHA:2222Hypertrichosis lanuginosa congenita
- ORPHA:2228Hypodontia-dysplasia of nails syndrome
- ORPHA:685067Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome
- ORPHA:238468Hypohidrotic ectodermal dysplasia
- ORPHA:98813Hypohidrotic ectodermal dysplasia with immunodeficiency
- ORPHA:1882Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- ORPHA:69088Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- ORPHA:1573Hypotrichosis with juvenile macular degeneration
- ORPHA:2266Hypotrichosis-intellectual disability, Lopes type
- ORPHA:307936Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
- ORPHA:730318ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome
- ORPHA:2269Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- ORPHA:464Incontinentia pigmenti
- ORPHA:2315Johanson-Blizzard syndrome
- ORPHA:2316Johnson neuroectodermal syndrome
- ORPHA:477KID syndrome
- ORPHA:140936Lelis syndrome
- ORPHA:1816Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
- ORPHA:589608Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
- ORPHA:560Marshall syndrome
- ORPHA:69087Naegeli-Franceschetti-Jadassohn syndrome
- ORPHA:423454Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
- ORPHA:2710Oculodentodigital dysplasia
- ORPHA:3339Oculoectodermal syndrome
- ORPHA:2713Oculoosteocutaneous syndrome
- ORPHA:2718Oculotrichodysplasia
- ORPHA:2722Odonto-onycho dysplasia-alopecia syndrome
- ORPHA:2721Odonto-onycho-dermal dysplasia
- ORPHA:69082Odonto-tricho-ungual-digito-palmar syndrome
- ORPHA:2723Odontotrichomelic syndrome
- ORPHA:2750Orofaciodigital syndrome type 1
- ORPHA:678Papillon-Lefèvre syndrome
- ORPHA:447961Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
- ORPHA:2890Pili torti-onychodysplasia syndrome
- ORPHA:2892Pilodental dysplasia-refractive errors syndrome
- ORPHA:69084Pure hair and nail ectodermal dysplasia
- ORPHA:2561Pyramidal molars-abnormal upper lip syndrome
- ORPHA:2036Scalp-ear-nipple syndrome
- ORPHA:50944Schöpf-Schulz-Passarge syndrome
- ORPHA:293165Skin fragility-woolly hair-palmoplantar keratoderma syndrome
- ORPHA:3291Teebi-Shaltout syndrome
- ORPHA:2251Thumb deformity-alopecia-pigmentation anomaly syndrome
- ORPHA:3352Tricho-dento-osseous syndrome
- ORPHA:1264Tricho-retino-dento-digital syndrome
- ORPHA:3351Trichodental syndrome
- ORPHA:3353Trichodermodysplasia-dental alterations syndrome
- ORPHA:79129Trichodysplasia-amelogenesis imperfecta syndrome
- ORPHA:3363Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- ORPHA:3355Trichoodontoonychial dysplasia
- ORPHA:324764Trichorhinophalangeal syndrome
- ORPHA:33364Trichothiodystrophy
Codes that Orphanet moved or referred to this one:
- ORPHA:3357OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly referred to · inactive
- ORPHA:3417OBSOLETE: Van den Bosch syndrome referred to · inactive
- ORPHA:90339OBSOLETE: Rosselli-Gulienetti syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 6-9 / 10 000 | — | Worldwide | Class only | Validated | 15468153[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79373
- This record as JSON: /data/d/79373.json