Florid cemento-osseous dysplasia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CEMENTOMAS, FAMILIAL MULTIPLE CEMENTAL DYSPLASIA, PERIAPICAL Focal cemento-osseous dysplasia Florid osseous dysplasia |
| Number of Symptoms | 6 |
| OrphanetNr: | 83451 |
| OMIM Id: |
137575
|
| ICD-10: |
D16.4 D16.5 |
| UMLs: |
C0555197 |
| MeSH: |
C537063 |
| MedDRA: |
|
| Snomed: |
63937004 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare odontal or periodontal disorder
-Rare genetic disease -Rare odontologic disease |
Symptom Information:
|
|
(HPO:0012328) | Cementoma | 1 / 7739 | ||||
|
|
(HPO:0001571) | Multiple impacted teeth | 5 / 7739 | ||||
|
|
(HPO:0000692) | Misalignment of teeth | 18 / 7739 | ||||
|
|
(OMIM) | Diffuse radiopaque masses scattered throughout the jaws | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Gigantiform cementoma | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Clinical Description OMIM |
Gigantiform cementoma is characterized by diffuse radioopaque masses scattered throughout the jaws. According to Young et al. (1989), a familial form was first described in an Italian family in 1953. In the affected family members, all 4 quadrants ... |
| Molecular genetics OMIM | Moshref et al. (2008) analyzed the COL1A2 gene (120160) in 2 Iranian brothers with gigantiform cementoma and bone fractures but found no pathogenic mutations. |