Brachydactyly type A6
historical
Synonyms: Acromesomelic dysplasia, Osebold-Remondini type · Osebold-Remondini syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type A6 | Acromesomelic dysplasia, Osebold-Remondini type · Osebold-Remondini syndrome |
| fr | Brachydactylie type A6 | Syndrome d'Osebold-Remondini |
| de | Brachydaktylie Typ A6 | Akromesomele Dysplasie Typ Osebold-Remondini · Osebold-Remondini-Syndrom |
| es | Braquidactilia tipo A6 | Displasia acromesomélica tipo Osebold-Remondini · Síndrome de Osebold-Remondini |
| it | Brachidattilia, tipo A6 | Displasia acromesomelica tipo Osebold-Remondini · Sindrome di Osebold-Remondini |
| nl | Brachydactylie type A6 | Acromesomele dysplasie, Osebold-Remondini-type · Syndroom van Osebold-Remondini |
| pt | Braquidactilia A6 | Displasia acromesomélica, tipo Osebold-Remondini · Síndrome Osebold-Remondini |
| pl | Brachydaktylia typu A6 | Zespół Osebolda i Remondiniego |
| cs | Brachydaktylie, typ A6 | Oseboldův-Remondiniho syndrom · Osebold-Remondiniho syndrom |
| uk | Брахідактилія, тип А6 | Синдром Осебольда-Ремондіні |
| zh | 短指（趾）畸形A6型 | Osebold-Remondini综合征 |
| tr | Brakidaktili tip A6 | Osebold-Remondini sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112910 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0007219 | E | validated | |
| MeSH | C537092 | E | validated | |
| UMLS | C1862130 | E | validated | |
| GARD | 983 | 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 (2):
- ORPHA:93437Acromesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:498451Dysostosis with brachydactyly without extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 4073128[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4073128[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93382
- This record as JSON: /data/d/93382.json