Camptodactyly of fingers
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Camptodactyly of fingers | |
| fr | Camptodactylie des doigts | |
| de | Kamptodaktylie der Finger | |
| es | Camptodactilia de los dedos de la mano | |
| it | Camptodattilia delle dita delle mani | |
| nl | Camptodactylie van vingers | |
| pt | Camptodactilia dos dedos da mão | |
| pl | Kamptodaktylia palców dłoni | |
| cs | Kamptodaktylie prstů ruky | |
| uk | Камптодактилія пальців рук | |
| zh | 驼指畸形 | |
| tr | Parmak kamptodaktilisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 114200 | E | validated | |
| ICD-10 | Q68.1 | NTBT | attributed | validated |
| ICD-11 | LB80.Y | NTBT | index | validated |
| MONDO | 0007250 | E | validated | |
| UMLS | C5551400 | E | validated | |
| GARD | 9448 | 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:294947Congenital deformities of fingers
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295016
- This record as JSON: /data/d/295016.json