Calvarial doughnut lesions - bone fragility
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Familial doughnut lesions of skull |
| Number of Symptoms | 5 |
| OrphanetNr: | 85192 |
| OMIM Id: |
126550
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| ICD-10: |
M85.8 |
| 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: | 20 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Primary bone dysplasia with decreased bone density
-Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
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(HPO:0000670) | Carious teeth | 145 / 7739 | ||||
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(HPO:0002757) | Recurrent fractures | 47 / 7739 | ||||
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(HPO:0003155) | Elevated alkaline phosphatase | 52 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Multiple hyperostotic or osteosclerotic lesions of calvaria | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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