ORPHA:2438
Hand-foot-genital syndrome
Synonyms: HFGS · Hand-foot-uterus syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hand-foot-genital syndrome | HFGS · Hand-foot-uterus syndrome |
| fr | Syndrome main-pied-utérus | HFGS |
| de | Hand-Fuß-Genital-Syndrom | HFGS · Hand-Fuss-Uterus-Syndrom |
| es | Síndrome mano-pie-genital | HFGS · Síndrome útero-mano-pie |
| it | Sindrome mano-piede-genitali | HFGS · Sindrome mano-piede-utero |
| nl | Hand-voet-genitaal syndroom | HFGS · Hand-voet-uterus-syndroom |
| pt | Síndrome mão-pé-genital | HFGS · Síndrome mão-pé-útero |
| pl | Zespół ręka-noga-genitalia | HFGS · Zespół dłoń-stopa-macica |
| cs | Syndrom ruka-noha-genitál | HFGS · Syndrom ruka-noha-děloha |
| uk | Синдром руки-ноги-геніталії | Синдром рука-нога-матка · HFGS |
| zh | 手-足-外生殖器综合征 | 手-足-子宫综合征 |
| tr | El-ayak-genital sendrom | HFGS · El-ayak-uterus sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 140000 | E | validated | |
| ICD-10 | Q51.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007698 | E | validated | |
| MeSH | C535627 | E | validated | |
| UMLS | C1841679 | E | validated | |
| GARD | 2594 | E | validated | |
| MedDRA | 10072361 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:180148Syndromic uterovaginal malformation
rare gynecological and obstetric diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HOXA13 | Disease-causing germline mutation(s) in | Assessed | HGNC:5102 | ENSG00000106031 | 142959 | 7p15.2 | homeobox A13 | 20301596[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 29177010[PMID]_33520218[PMID]_29638102[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29177010[PMID]_33520218[PMID]_29638102[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000130 | Abnormality of the uterus | |
| HP:0000813 | Bicornuate uterus | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0010034 | Short 1st metacarpal | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0010105 | Short first metatarsal | |
| HP:0010109 | Short hallux | |
| HP:0009778 | Short thumb | |
| HP:0006110 | Shortening of all middle phalanges of the fingers | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0000074 | Ureteropelvic junction obstruction | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000795 | Abnormality of the urethra | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0008080 | Hallux varus | |
| HP:0011937 | Hypoplastic fifth toenail | |
| HP:0000047 | Hypospadias | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0008551 | Microtia | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000960 | Sacral dimple | |
| HP:0005268 | Spontaneous abortion | |
| HP:0000486 | Strabismus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2438
- This record as JSON: /data/d/2438.json