Symbrachydactyly of hands and feet
Synonyms: De Smet-Fabry-Fryns syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies. Patients typically present short, stiff, webbed or missing fingers and/or toes which are often replaced with small stumps (nubbins) with residual nails.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Symbrachydactyly of hands and feet | De Smet-Fabry-Fryns syndrome |
| fr | Symbrachydactylie des pieds et des mains | Syndrome de De Smet-Fabry-Fryns |
| de | Symbrachydaktylie der Hände und Füße | De Smet-Fabry-Fryns-Syndrom |
| es | Simbraquidactilia de manos y pies | Síndrome de De Smet-Fabry-Fryns |
| it | Sinbrachidattilia delle mani e dei piedi | Sindrome di De Smet-Fabry-Fryns |
| nl | Symbrachydactylie van handen en voeten | De Smet-Fabry-Frynssyndroom |
| pt | Simbraquidactilia das mãos e pés | Síndrome De Smet-Fabry-Fryns |
| pl | Symbrachydaktylia dłoni i stóp | Zespół De Smeta, Fabry'ego i Frynsa |
| cs | Symbrachydaktylie rukou a nohou | De Smetův-Fabryho-Frynsův syndrom · De Smet-Fabry-Frynsův syndrom |
| uk | Симбрахідактилія рук і ніг | Синдром де Смет-Фабрі-Фрінса |
| zh | 手足指(趾)蹼畸形 | De Smet-Fabry-Fryns 综合征 |
| tr | El ve ayakların simbrakidaktili | De Smet-Fabry-Fryns sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LB75.2 | E | specific | validated |
| MONDO | 0015516 | E | validated | |
| MeSH | C538062 | E | validated | |
| UMLS | C2931719 | E | validated | |
| GARD | 1680 | 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 | 2 cases | Worldwide | Case(s) | Validated | 9555583[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9555583[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100745 | Abnormality of the humeroulnar joint | |
| HP:0009800 | Maternal diabetes | |
| Frequent (79-30%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0002650 | Scoliosis | |
| HP:0003422 | Vertebral segmentation defect | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1570
- This record as JSON: /data/d/1570.json