ORPHA:1962
Exostoses-anetodermia-brachydactyly type E syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- historical
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Exostoses-anetodermia-brachydactyly type E syndrome | |
| fr | Syndrome d'exostoses-anétodermie-brachydactylie type E | |
| de | Exostosen-Anetodermie-Brachydaktylie Typ E-Syndrom | |
| es | Síndrome de exostosis-anetodermia-braquidactilia tipo E | |
| it | Esostosi - anetodermia - brachidattilia tipo E | |
| nl | Exostose - anetodermie - brachydactylie type E-syndroom | |
| pt | Síndrome de exostoses-anetodermia-braquidactilia tipo E | |
| pl | Egzostoza - zanik plamisty skóry - brachydaktylia typu E | |
| cs | Syndrom zahrnující exostózy, anetodermii a brachydaktylii typu E | |
| uk | Синдром екзостозів-анетодермії-брахідактилії, тип Е | |
| zh | 外生骨疣-皮肤松垂-侏儒-短指（趾）综合征E型 | |
| tr | Ekzostoz-anetodermi-brakidaktili tip E sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133690 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.21 | E | specific | validated |
| MONDO | 0007584 | E | validated | |
| UMLS | C4518772 | 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 (1):
- ORPHA:93450Primary bone dysplasia with disorganized development of skeletal components
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 6334993[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6334993[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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0004334 | Dermal atrophy | |
| HP:0012733 | Macule | |
| HP:0002762 | Multiple exostoses | |
| HP:0005863 | Type E brachydactyly | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1962
- This record as JSON: /data/d/1962.json