Brachydactyly-long thumb syndrome
historical
Synonyms: Brachydactyly, long thumb type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare heart-hand syndrome characterized by bisymmetric brachydactyly accompanied by long thumbs and cardiomegaly. Cardiac conduction defects may also be present. Additional clinical features include limited internal and external rotation of the shoulders (that are usually narrow with short clavicles) and limited flexion of the metacarpophalangeal joints. Mild shortness of the limbs, small hands and feet, clinodactyly, pectus excavatum and murmur of pulmonic stenosis have also been reported. There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly-long thumb syndrome | Brachydactyly, long thumb type |
| fr | Syndrome de pouce long-brachydactylie | |
| de | Syndrom der Brachydaktylie mit langem Daumen | |
| es | Síndrome de braquidactilia-pulgar largo | |
| it | Pollice lungo - brachidattilia | |
| nl | Brachydactylie - lange duim | |
| pt | Síndrome de braquidactilia-polegar longo | |
| pl | Brachydaktylia - długi kciuk | Brachydaktylia - długi kciuk, typu długiego kciuka |
| cs | Syndrom zahrnující brachydaktylii a dlouhý palec na ruce | Brachydaktylie, typ s dlouhým palcem na ruce |
| uk | Синдром брахідактилії довгого великого пальця | Брахідактилія, довгий тип великого пальця |
| zh | 短指(趾)畸形-长拇指综合征 | 短指（趾）畸形，长拇指型 |
| tr | Brakidaktili-uzun başparmak sendromu | Brakidaktili, uzun başparmak tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112430 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007212 | E | validated | |
| MeSH | C566204 | E | validated | |
| UMLS | C1862169 | E | validated | |
| GARD | 968 | 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 (3):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:228184Heart-hand syndrome
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 | 4 cases | Worldwide | Case(s) | Validated | 7246605[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7246605[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/2946
- This record as JSON: /data/d/2946.json