Hallux varus-preaxial polysyndactyly syndrome
historical
Synonyms: Kleiner-Holmes syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hallux varus-preaxial polysyndactyly syndrome | Kleiner-Holmes syndrome |
| fr | Syndrome d'hallux varus-polysyndactylie préaxiale | Syndrome de Kleiner-Holmes |
| de | Hallux varus mit präaxialer Polysyndaktylie | Kleiner-Holmes-Syndrom |
| es | Síndrome de hallux varus-polisindactilia preaxial | Síndrome de Kleiner-Holmes |
| it | Sindrome da alluce varo e polisindattilia preassiale | Sindrome di Kleiner Holmes |
| nl | Hallux varus - preaxiale polysyndactylie-syndroom | Syndroom van Kleiner-Holmes |
| pt | Síndrome de hallux varus-polissindactilia pré-axial | Síndrome Kleiner-Holmes |
| pl | Paluch koślawy - polisyndaktylia przedosiowa | Zespół Kleinera i Holmesa |
| cs | Syndrom zahrnující hallux varus a preaxiální polysyndaktylii | Kleinerův-Holmesův syndrom · Kleiner-Holmesův syndrom |
| uk | Синдром Hallux varus-преаксіальної полісиндактилії | Синдром Клейнера-Холмса |
| zh | 拇内翻-轴前多指（趾）综合征 | Kleiner-Holmes综合征 |
| tr | Halluks varus-preaksiyal polisindaktili sendrom | Kleiner-Holmes sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 234280 | E | validated | |
| ICD-10 | Q74.2 | NTBT | attributed | validated |
| MONDO | 0009321 | E | validated | |
| MeSH | C536885 | E | validated | |
| UMLS | C1856197 | E | validated | |
| GARD | 3118 | 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:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
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 | 2 cases | Worldwide | Case(s) | Validated | 6255798[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6255798[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
2 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001852 | Sandal gap | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2110
- This record as JSON: /data/d/2110.json