Brachyolmia-amelogenesis imperfecta syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Verloes-Bourguignon syndrome Platyspondyly - amelogenesis imperfecta |
| Number of Symptoms | 15 |
| OrphanetNr: | 2899 |
| OMIM Id: |
601216
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| ICD-10: |
Q76.3 |
| 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 recessive [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Brachyolmia
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Genetic malformation syndrome with odontal and/or periodontal component -Rare genetic disease Malformation syndrome with odontal and/or periodontal component -Rare developmental defect during embryogenesis -Rare odontologic disease |
Symptom Information:
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(HPO:0000687) | Widely spaced teeth | 40 / 7739 | ||||
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(HPO:0000327) | Hypoplasia of the maxilla | rare [HPO:skoehler] | 129 / 7739 | |||
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(HPO:0000677) | Oligodontia | 41 / 7739 | ||||
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(HPO:0000303) | Mandibular prognathia | rare [HPO:skoehler] | 179 / 7739 | |||
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(HPO:0000691) | Microdontia | 104 / 7739 | ||||
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(HPO:0000705) | Amelogenesis imperfecta | 25 / 7739 | ||||
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(HPO:0008450) | Narrow vertebral interpedicular distance | 6 / 7739 | ||||
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(HPO:0000926) | Platyspondyly | 150 / 7739 | ||||
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(HPO:0002945) | Intervertebral space narrowing | 7 / 7739 | ||||
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(HPO:0008441) | Herniation of intervertebral nuclei | 2 / 7739 | ||||
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(HPO:0002750) | Delayed skeletal maturation | 250 / 7739 | ||||
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(HPO:0004322) | Short stature | 1232 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Posterior scalloping | 2 / 7739 | ||||
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(OMIM) | Thick, short pedicles | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Verloes et al. (1996) described an apparently 'new' form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly in a brother and sister born of consanguineous parents. Hallmarks were amelogenesis imperfecta (absence of the enamel cap) associated with short ... |