Brachydactyly-preaxial hallux varus syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
A rare dysostosis with brachydactyly with exstraskeletal manifestations characterized by hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly-preaxial hallux varus syndrome | |
| fr | Syndrome de brachydactylie préaxiale-hallux varus | |
| de | Präaxiale Brachydaktylie-Hallux varus-Syndrom | |
| es | Síndrome de braquidactilia-hallux varus preaxial | |
| it | Sindrome brachidattilia preassiale-alluce varo | |
| nl | Brachydactylie - preaxiale hallux varus-syndroom | |
| pt | Síndrome de braquidactilia-hallux varus pré-axial | |
| pl | Brachydaktylia - przedosiowy paluch koślawy | |
| cs | Syndrom zahrnující brachydaktylii a preaxiální hallux varus | |
| uk | Синдром брахідактилії з преаксіальною варусною клишоногості | |
| zh | 短指畸形-前轴型拇内翻综合征 | |
| tr | Brakidaktili-preaksiyal halluks varus sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112450 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| MONDO | 0007214 | E | validated | |
| UMLS | C4518542 | E | validated | |
| GARD | 972 | 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 (1):
- ORPHA:498454Dysostosis with brachydactyly with 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 | 8 cases | Worldwide | Case(s) | Validated | 5082920[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5082920[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011304 | Broad thumb | |
| HP:0000347 | Micrognathia | |
| HP:0004059 | Radial club hand | |
| HP:0010049 | Short metacarpal | |
| HP:0010743 | Short metatarsal | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000431 | Wide nasal bridge | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1278
- This record as JSON: /data/d/1278.json