Branchio-skeleto-genital syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
BSG SYNDROME |
| Number of Symptoms | 14 |
| OrphanetNr: | 1299 |
| OMIM Id: |
211380
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| ICD-10: |
Q87.8 |
| 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: | 3 cases [Orphanet] |
| Inheritance: |
Autosomal recessive X-linked dominant [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis -Rare genetic disease Rare genetic intellectual deficit with developmental anomaly -Rare genetic disease Rare intellectual deficit with developmental anomaly -Rare neurologic disease Syndromic urogenital tract malformation -Rare developmental defect during embryogenesis -Rare genetic disease -Rare urogenital disease |
Symptom Information:
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(HPO:0000808) | Penoscrotal hypospadias | 4 / 7739 | ||||
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(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
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(HPO:0000327) | Hypoplasia of the maxilla | 129 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | 179 / 7739 | ||||
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(HPO:0010603) | Odontogenic keratocysts of the jaw | 3 / 7739 | ||||
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(HPO:0000193) | Bifid uvula | 66 / 7739 | ||||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0000767) | Pectus excavatum | 244 / 7739 | ||||
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(HPO:0000925) | Abnormality of the vertebral column | 20 / 7739 | ||||
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(OMIM) | Schmorl nodes | 3 / 7739 | ||||
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(OMIM) | Cleft plate, partial | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Cervical spinous processes fused | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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