ORPHA:1003
Scalp defects-postaxial polydactyly syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
A rare syndrome with limb malformations as a major feature characterized by congenital scalp defects and postaxial polydactyly type A. There is a wide variability of expression, with some patients showing only one of the typical manifestations. 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 | Scalp defects-postaxial polydactyly syndrome | |
| fr | Syndrome d'alopécie circonscrite-polydactylie | |
| de | Kopfhautdefekte-postaxiale Polydaktylie-Syndrom | |
| es | Síndrome de defectos del cuero cabelludo-polidactilia postaxial | |
| it | Sindrome difetti del cuoio capelluto-polidattilia postassiale | |
| nl | Defecten van scalp - postaxiale polydactylie-syndroom | |
| pt | Síndrome de defeitos no couro cabeludo-polidactilia pós-axial | |
| pl | Wady skóry głowy - polidaktylia pozaosiowa | |
| cs | Syndrom zahrnující defekty kůže hlavy a postaxiální polydaktylii | |
| uk | Cиндром дефекту шкіри голови - постаксіальної полідактилії | |
| zh | 头皮缺损-轴后性多指（趾）综合征 | |
| tr | Kafa derisi defektleri-postaksiyal polidaktili sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181250 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0008403 | E | validated | |
| MeSH | C536622 | E | validated | |
| UMLS | C4511971 | E | validated | |
| GARD | 241 | 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:183481Genetic mixed dermis disorder
rare genetic diseases - ORPHA:79380Mixed dermis disorder
rare skin diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
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 | 2 cases | Worldwide | Case(s) | Validated | 4029956[PMID]_468253[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4029956[PMID]_468253[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
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005696 | Postaxial polydactyly type A | |
| Frequent (79-30%) | ||
| HP:0002084 | Encephalocele | |
| HP:0001362 | Skull defect | |
| HP:0002209 | Sparse scalp hair | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1003
- This record as JSON: /data/d/1003.json