Ectodermal dysplasia, trichoodontoonychial type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Ectodermal dysplasia, trichoodontoonychial type is a form of ectodermal dysplasia with hair, teeth and nail involvement characterized predominantly by hypodontia, hypotrichosis, delayed hair growth and brittle nails. Additionally, focal dermal hypoplasia, irregular hyperpigmentation, hypoplastic or absent nipples, amastia, hearing impairment, congenital hip dislocation and asthma have been associated. There have been no further descriptions in the literature since 1996.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia, trichoodontoonychial type | |
| fr | Dysplasie ectodermique tricho-odonto-onychiale | |
| de | Dysplasie, ektodermale, tricho-odonto-onychaler Typ | |
| es | Displasia ectodérmica tipo trico-odonto-oniquial | |
| it | Displasia ectodermica, tipo onico-trico-dentale | |
| nl | Ectodermale dysplasie, tricho-odonto-onychiaal type | |
| pt | Displasia ectodérmica, tipo trico-odonto-ungueal | |
| pl | Dysplazja ektodermalna typu włosowo-zębowo- paznokciowego | |
| cs | Ektodermální dysplázie, trichoodontoonychiální typ | |
| uk | Ектодермальна дисплазія, трихоодонтооніхіальний тип | |
| zh | 外胚层发育不良，毛发牙齿型 | |
| tr | Ektodermal displazi, trishoodontokonşiyal tip |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 129510 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007511 | E | validated | |
| MeSH | C565068 | E | validated | |
| UMLS | C1851858 | E | validated | |
| GARD | 2055 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 3740884[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3740884[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.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000366 | Abnormality of the nose | |
| HP:0000668 | Hypodontia | |
| HP:0007521 | Irregular hyperpigmentation of back | |
| HP:0100578 | Lipoatrophy | |
| HP:0002231 | Sparse body hair | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0000995 | Melanocytic nevus | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1818
- This record as JSON: /data/d/1818.json