ORPHA:2498
Syndactyly type 8
Synonyms: Fusion of metacarpals 4 and 5
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked recessive
- Status
- active
A rare non-syndromic syndactyly characterized by unilateral or bilateral fusion of the 4th and 5th metacarpals with no other associated abnormalities. Patients present shortened 4th and 5th metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the 5th finger in parallel with the other fingers.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndactyly type 8 | Fusion of metacarpals 4 and 5 |
| fr | Syndactylie type 8 | Fusion des métacarpes 4 et 5 · Métacarpes 4 et 5 fusionnés |
| de | Syndaktylie Typ 8 | Mittelhandknochen 4 und 5, Fusion der |
| es | Sindactilia tipo 8 | Fusión de los metacarpianos 4 y 5 |
| it | Sindattilia, tipo 8 | Fusione del IV e V metacarpo |
| nl | Syndactylie type 8 | Fusie van metacarpalen 4 en 5 |
| pt | Sindactilia tipo 8 | Fusão dos 4 e 5 metacarpianos |
| pl | Syndaktylia typu 8 | Zrost 4 i 5 kości śródręcza |
| cs | Syndaktylie typu 8 | Fúze metakarpů 4 a 5 |
| uk | Синдактилія 8 типу | Зрощення пясткових кісток 4 і 5 |
| zh | 并指症8型 | 第4和5掌骨融合 |
| tr | Sindaktili tip 8 | Metakarpal 4 ve 5'in füzyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309630 | E | validated | |
| ICD-10 | Q70.0 | NTBT | attributed | validated |
| ICD-11 | LB79.Y | NTBT | index | validated |
| MONDO | 0010669 | E | validated | |
| MeSH | C564100 | E | validated | |
| UMLS | C1839728 | E | validated | |
| GARD | 3559 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:90025Non-syndromic syndactyly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGF16 | Disease-causing germline mutation(s) in | Assessed | HGNC:3672 | ENSG00000196468 | 300827 | Xq21.1 | fibroblast growth factor 16 | 23709756[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2498
- This record as JSON: /data/d/2498.json