ORPHA:79129
Trichodysplasia-amelogenesis imperfecta syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichodysplasia-amelogenesis imperfecta syndrome | |
| fr | Syndrome de trichodysplasie-amélogenèse imparfaite | |
| de | Trichodysplasie-Amelogenesis imperfecta-Syndrom | |
| es | Síndrome de tricodisplasia-amelogénesis imperfecta | |
| it | Sindrome tricodisplasia-amelogenesi imperfetta | |
| nl | Trichodysplasie - amelogenesis imperfecta-syndroom | |
| pt | Tricodisplasia - amelogénese imperfeita | |
| pl | Trichodysplazja - wrodzony niedorozwój szkliwa | |
| cs | Syndrom zahrnující trichodysplázii a amelogenesis imperfecta | |
| uk | Синдром триходисплазії - недосконалого амелогенезу | |
| zh | 毛发-牙釉质发育不良综合征 | |
| tr | Trikodisplazi-amelogenesis imperfekta sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0019205 | E | validated | |
| UMLS | C4304344 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 8419879[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8419879[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002293 | Alopecia of scalp | |
| HP:0000705 | Amelogenesis imperfecta | |
| HP:0002552 | Trichodysplasia | |
Annotation source: 8419879[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79129
- This record as JSON: /data/d/79129.json