Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Synonyms: Schmitt-Gillenwater-Kelly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome | Schmitt-Gillenwater-Kelly syndrome |
| fr | Syndrome d'hypoplasie du radius-pouces triphalangés-hypospadias-progénie | Syndrome de Schmitt-Gillenwater-Kelly |
| de | Radiushypoplasie-triphalangeale Daumen-Hypospadie-Progenie-maxilläres Diastema-Syndrom | Schmitt-Gillenwater-Kelly-Syndrom |
| es | Síndrome de hipoplasia radial-pulgares trifalángicos-hipospadias-diastema maxilar | |
| it | Ipoplasia radiale - pollici trifalangei - ipospadia - diastema mascellare | Sindrome di Schmitt-Gillenwater-Kelly |
| nl | Hypoplasie van radius - trifalangeale duimen - hypospadie - maxillair diasteem-syndroom | Syndroom van Schmitt-Gillenwater-Kelly |
| pt | Síndrome de hipoplasia radial-polegar trifalângico-hipospadias-diastema maxilar | Síndrome Schmitt-Gillenwater-Kelly |
| pl | Hipoplazja kości łokciowej - trójpaliczkowe kciuki - spodziectwo - diastema szczęki | Zespół Schmitta, Gillenwatera i Kelly'ego |
| cs | Syndrom zahnující radiální hypoplázii, trifalangeální palce, hypospadii a maxilární diastema | Schmittův-Gillenwaterův-Kellyho syndrome · Schmitt-Gillenwater-Kellyho syndrome |
| uk | Синдром гіпоплазії променевої кістки - трифалангових великих пальців - гіпоспадії - щелепної діастеми | Синдром Шмітта-Гілленвотера-Келлі |
| zh | 桡骨发育不全-拇指三指节畸形-尿道下裂-上颌骨纵裂综合征 | Schmitt-Gillenwater-Kell综合征 |
| tr | Radyal hipoplazi-trifalanjiyal başparmak-hipospadias-maksiller diastema sendromu | Schmitt-Gillenwater-Kelly sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 179250 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0008357 | E | validated | |
| MeSH | C536262 | E | validated | |
| UMLS | C1867397 | E | validated | |
| GARD | 258 | 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 (3):
- 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:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital 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 | 8 cases | Worldwide | Case(s) | Validated | 7137222[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7137222[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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0000047 | Hypospadias | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002983 | Micromelia | |
| HP:0005725 | Nonopposable triphalangeal thumb | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2252
- This record as JSON: /data/d/2252.json