Mirror-image polydactyly
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mirror-image polydactyly | |
| fr | Polydactylie en miroir | |
| de | Spiegelbild-Polydaktylie | |
| es | Polidactilia de imagen especular | |
| it | Polidattilia a specchio | |
| nl | Spiegelbeeld-polydactylie | |
| pt | Polidactilia espelhada | |
| pl | Polidaktylia lustrzanego odbicia | |
| cs | Zrcadlová polydaktylie | |
| uk | Дзеркальна полідактилія | |
| zh | 镜像多指 | |
| tr | Ayna-görüntülü polidaktili |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0034678 | E | validated | |
| UMLS | C5700308 | 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:498470Non-syndromic complex polydactyly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PITX1 | Role in the phenotype of | Assessed | HGNC:9004 | ENSG00000069011 | 602149 | 5q31.1 | paired like homeodomain 1 | 22258522[PMID] |
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/498494
- This record as JSON: /data/d/498494.json