Brachydactyly type A4
historical
Synonyms: Brachydactyly, Temtamy type · Brachymesophalangy II and V
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type A4 | Brachydactyly, Temtamy type · Brachymesophalangy II and V |
| fr | Brachydactylie type A4 | Brachydactylie type Temtamy · Brachymésophalangie II et V |
| de | Brachydaktylie Typ A4 | Brachydaktylie Typ Temtamy · Brachymesophalangie II und V |
| es | Braquidactilia tipo A4 | Braquidactilia-clinodactilia |
| it | Brachidattilia tipo A4 | Brachidattilia, tipo Temtamy · Brachimesofalangia II eV |
| nl | Brachydactylie type A4 | Brachymesofalangie II en V · Brachydactylie, Temtamy-type |
| pt | Braquidactilia tipo A4 | Braquidactilia, tipo Temtamy · Braquimesofalangia II e V |
| pl | Brachydaktylia typu A4 | Brachydaktylia, typ Temtamy · Brachymezofalangia II i V |
| cs | Brachydaktylie, typ A4 | Brachydaktylie, Temtamyové typ · Brachymezofalangie II a V |
| uk | Брахідактилія, тип А4 | Брахідактилія, тип Темтамі · Брахімезофаланга II і V |
| zh | 短指（趾）畸形A4型 | 短中指（趾）畸形II和V型 |
| tr | Brakidaktili tip A4 | Brakidaktili, Temtamy tipi · Brakimezofalanji II ve V |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112800 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0007218 | E | validated | |
| MeSH | C537097 | E | validated | |
| UMLS | C1862139 | E | validated | |
| GARD | 990 | 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: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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_18554391[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009577 | Short middle phalanx of the 2nd finger | |
| HP:0004220 | Short middle phalanx of the 5th finger | |
| HP:0006239 | Shortening of all middle phalanges of the toes | |
| Frequent (79-30%) | ||
| HP:0004322 | Short stature | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| Occasional (29-5%) | ||
| HP:0001762 | Talipes equinovarus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93394
- This record as JSON: /data/d/93394.json