Brachydactyly type A7
historical
Synonyms: Brachydactyly, Smorgasbord type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type A7 | Brachydactyly, Smorgasbord type |
| fr | Brachydactylie type A7 | Brachydactylie de Smorgasbord |
| de | Brachydaktylie Typ A7 | Brachydaktylie Typ Smørgasbord |
| es | Braquidactilia tipo A7 | Braquidactilia tipo Smorgasbord |
| it | Brachidattilia, tipo A7 | Brachidattilia, tipo Smorgasbord |
| nl | Brachydactylie type A7 | Brachydactylie, Smorgasbord-type |
| pt | Braquidactilia tipo A7 | |
| pl | Brachydaktylia typu A7 | Brachydaktylia, typ Smorgasborda |
| cs | Brachydaktylie, typ A7 | Brachydaktylie, typ smorgasbord |
| uk | Брахідактилія, тип А7 | Брахідактилія за типом шведського столу |
| zh | 短指（趾）畸形A7型 | 短指（趾）畸形，Smorgasbord型 |
| tr | Brakidaktili tip A7 | Brakidaktili, Smorgasbord tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0019679 | E | validated | |
| UMLS | C4303991 | E | validated | |
| GARD | 984 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 2714013[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2714013[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
17 annotations · validated 2019-10-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand | |
| HP:0001822 | Hallux valgus | |
| HP:0001852 | Sandal gap | |
| HP:0010109 | Short hallux | |
| Occasional (29-5%) | ||
| HP:0009576 | Absent middle phalanx of 2nd finger | |
| HP:0009642 | Broad distal phalanx of the thumb | |
| HP:0010348 | Broad phalanges of the 2nd toe | |
| HP:0011304 | Broad thumb | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0009700 | Finger symphalangism | |
| HP:0008096 | Medially deviated second toe | |
| HP:0009467 | Radial deviation of the 2nd finger | |
| HP:0009536 | Short 2nd finger | |
| HP:0100394 | Short middle phalanx of the 5th toe | |
| HP:0009523 | Triangular epiphysis of the middle phalanx of the 2nd finger | |
| HP:0009464 | Ulnar deviation of the 2nd finger | |
Annotation source: 2714013[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93397
- This record as JSON: /data/d/93397.json