ORPHA:85203
Acropectoral syndrome
Synonyms: ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acropectoral syndrome | ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome |
| fr | Syndrome acropectoral | Syndrome ACRP · Syndrome de syndactylie-polydactylie préaxiale-déformation sternale |
| de | Akro-pektorales Syndrom | ACRP-Syndrom · Syndaktylie - präaxiale Polydaktylie - Sternumdeformität |
| es | Síndrome acro-pectoral | Síndrome ACRP · Síndrome de sindactilia-polidactilia preaxial-deformidad del esternón |
| it | Sindrome acropettorale | Sindattilia - polidattilia preassiale - deformazione dello sterno · Sindrome ACRP |
| nl | Acropectoraal syndroom | ACRP-syndroom · Syndactylie - preaxiale polydactylie - misvorming van sternum-syndroom |
| pt | Síndrome acro-peitoral | |
| pl | Zespół kończynowo-piersiowy | Zespół ACRP · Zespół syndaktylii, polidaktylii przedosiowej i deformacji mostka |
| cs | Akropektorální syndrom | ACRP syndrom · Syndrom zahrnující syndaktylii, preaxiální polydaktylii a deformitu sterna |
| uk | Акропекторальний синдром | ACRP-синдром · Синдром преаксіальної полідактилії-стернальної деформації з синдактилією |
| zh | Acropectoral综合征 | 并指-轴前多指-胸骨畸形综合征 |
| tr | Akropektoral sendrom | ACRP sendromu · Sindaktili-preaksiyel polidaktili-sternal deformite sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605967 | E | validated | |
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| ICD-11 | LB73.13 | NTBT | index | validated |
| MONDO | 0011621 | E | validated | |
| MeSH | C535664 | E | validated | |
| UMLS | C1853812 | E | validated | |
| GARD | 8485 | 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 (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 22183091[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22183091[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.
6
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000765 | Abnormal thorax morphology | |
| HP:0006101 | Finger syndactyly | |
| HP:0001177 | Preaxial hand polydactyly | |
Run the differential on the 3 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85203
- This record as JSON: /data/d/85203.json