Radial hypoplasia - triphalangeal thumbs - hypospadias - maxillary diastema
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Schmitt-Gillenwater-Kelly syndrome |
| Number of Symptoms | 12 |
| OrphanetNr: | 2252 |
| OMIM Id: |
179250
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| ICD-10: |
Q87.2 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000699) | Diastema | 10 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | Very frequent [Orphanet] | 179 / 7739 | |||
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(HPO:0002984) | Hypoplasia of the radius | 44 / 7739 | ||||
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(HPO:0003027) | Mesomelia | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0002818) | Abnormality of the radius | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0005725) | Nonopposable triphalangeal thumb | 4 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0001199) | Triphalangeal thumb | Very frequent [Orphanet] | 56 / 7739 | |||
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(OMIM) | First-degree hypospadias in males | 1 / 7739 | ||||
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(OMIM) | Anterior maxillary diastema | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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