ORPHA:2957
Guttmacher syndrome
Synonyms: Preaxial deficiency-postaxial polydactyly-hypospadias syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Guttmacher syndrome | Preaxial deficiency-postaxial polydactyly-hypospadias syndrome |
| fr | Syndrome de Guttmacher | Syndrome de déficit préaxial-polydactylie postaxiale-hypospadias |
| de | Guttmacher-Syndrom | Fehlbildung, präaxiale - postaxiale Polydaktylie - Hypospadie |
| es | Síndrome de Guttmacher | Deficiencia preaxial-polidactilia postaxial-hipospadias |
| it | Sindrome di Guttmacher | Difetto preassiale - polidattilia postassiale - ipospadia |
| nl | Syndroom van Guttmacher | Preaxiale deficiëntie - postaxiale polydactylie - hypospadie-syndroom |
| pt | Síndrome Guttmacher | Síndrome de anomalia pré-axial-polidactilia pós-axial-hipospadias |
| pl | Zespół Guttmachera | Deficyt przedosiowy - polidaktylia pozaosiowa - spodziectwo |
| cs | Guttmacherův syndrom | Syndrom zahrnující preaxiální ztrátové vady končetin, postaxiální polydaktylii a hypospadii |
| uk | Синдром Гутмахера | Синдром преаксіального дефіциту- постаксіальної полідактилії-гіпоспадії |
| zh | Gttmacher综合征 | 轴前缺失-轴后多指-尿道下裂综合征 |
| tr | Guttmacher sendromu | preaksiyel eksiklik-aksiyal polidaktili-hipospadias sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 176305 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD26.2 | NTBT | index | validated |
| MONDO | 0008301 | E | validated | |
| MeSH | C538278 | E | validated | |
| UMLS | C1867801 | E | validated | |
| GARD | 4470 | 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 (2):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases
No children.
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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 | 11968094[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8484413[PMID] |
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 8484413[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.
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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/2957
- This record as JSON: /data/d/2957.json