Mazabraud syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Myxoma with fibrous dysplasia |
| Number of Symptoms | 5 |
| OrphanetNr: | 57782 |
| OMIM Id: |
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| ICD-10: |
D21.9 M85.0 |
| 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: | 54 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with disorganized development of skeletal components
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease Rare soft tissue tumor -Rare oncologic disease |
Symptom Information:
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(HPO:0000924) | Abnormality of the skeletal system | Occasional [Orphanet] | 114 / 7739 | |||
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(HPO:0002659) | Increased susceptibility to fractures | Occasional [Orphanet] | 110 / 7739 | |||
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(HPO:0010622) | Neoplasm of the skeletal system | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0002664) | Neoplasm | Very frequent [Orphanet] | 111 / 7739 | |||
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(HPO:0030426) | Ossifying fibroma | Very frequent [Orphanet] | 5 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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