Familial ossifying fibroma
Synonyms: Familial Gigantiform cementoma · Multiple ossifying fibroma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial ossifying fibroma | Familial Gigantiform cementoma · Multiple ossifying fibroma |
| fr | Fibrome ossifiant familial | Fibrome ossifiant multiple |
| de | Familiäres ossifizierendes Fibrom | Multiple ossifizierende Fibrome |
| es | Fibroma osificante familiar | Cementoma gigantiforme familiar · Fibroma osificante múltiple |
| it | Fibroma ossificante familiare | Cementoma gigante familiare · Fibroma ossificante multiplo |
| nl | Familiaal ossificerend fibroom | Familiaal gigantiform cementoom · Meervoudig ossificerend fibroom |
| pt | Fibroma ossificante familiar | Fibroma ossificante múltiplo |
| pl | Rodzinny włókniak kostniejący | = en |
| cs | Familiární osifikující fibrom | Mnohočetný osifikující fibrom |
| uk | Сімейна осифікуюча фіброма | Сімейна гігантоподібна цементома · Множинна осифікуюча фіброма |
| zh | 家族性骨化性纤维瘤 | 多发性骨化纤维瘤 |
| tr | Ailesel kemikleşen fibroma | Çoklu kemikleşen fibroma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 137575 | E | validated | |
| ICD-10 | D16.4 | NTBT | attributed | validated |
| ICD-11 | 2E83.0 | NTBT | attributed | validated |
| MONDO | 0007660 | E | validated | |
| MeSH | C563017 | E | validated | |
| UMLS | C3495361 | E | validated | |
| MedDRA | 10081225 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183527Genetic bone tumor
rare genetic diseases - ORPHA:68411Rare bone tumor
rare bone diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/435329
- This record as JSON: /data/d/435329.json