Camptobrachydactyly
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptobrachydactyly | |
| fr | Camptobrachydactylie | |
| de | Kamptobrachydaktylie | |
| es | Camptobraquidactilia | |
| it | Camptobrachidattilia | |
| nl | Camptobrachydactylie | |
| pt | Camptobraquidactilia | |
| pl | Kamptobrachydaktylia | |
| cs | Kamptobrachydaktylie | |
| uk | Камптобрахідактилія | |
| zh | 短指弯曲畸形 | |
| tr | Kamptobrakidaktili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114150 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0007249 | E | validated | |
| MeSH | C537967 | E | validated | |
| UMLS | C1861963 | E | validated | |
| GARD | 1062 | 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 | 5031984[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5031984[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
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| Frequent (79-30%) | ||
| HP:0006101 | Finger syndactyly | |
| HP:0001153 | Septate vagina | |
| HP:0001770 | Toe syndactyly | |
| HP:0009465 | Ulnar deviation of finger | |
| Occasional (29-5%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0001800 | Hypoplastic toenails | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1319
- This record as JSON: /data/d/1319.json