ORPHA:249
Fibrous dysplasia of bone
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fibrous dysplasia of bone | |
| fr | Dysplasie fibreuse des os | |
| de | Knochendysplasie, fibröse | |
| es | Displasia fibrosa de hueso | Displasia ósea fibrosa |
| it | Displasia fibrosa dell'osso | |
| nl | Fibreuze dysplasie van bot | |
| pt | Displasia óssea fibrosa | |
| pl | Dysplazja włóknista kości | |
| cs | Fibrózní kostní dysplázie | |
| uk | Фіброзна дисплазія кісток | |
| zh | 骨纤维发育不良 | |
| tr | Lifli kemik displazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M85.0 | NTBT | attributed | validated |
| ICD-11 | FB80.0 | E | specific | validated |
| MONDO | 0000845 | E | validated | |
| MONDO | 845 | E | validated | |
| MeSH | D005357 | E | validated | |
| UMLS | C0259779 | E | validated | |
| GARD | 6444 | E | validated | |
| MedDRA | 10016664 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:595216Fibrous dysplasia/McCune-Albright syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GNAS | ORPHA:93276Polyostotic fibrous dysplasia | Disease-causing somatic mutation(s) in | Assessed | HGNC:4392 | ENSG00000087460 | 139320 | 20q13.32 | GNAS complex locus | 10535539[PMID]_10646121[PMID] |
| GNAS | ORPHA:93277Monostotic fibrous dysplasia | Disease-causing somatic mutation(s) in | Assessed | HGNC:4392 | ENSG00000087460 | 139320 | 20q13.32 | GNAS complex locus | 10535539[PMID]_10646121[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
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HPO phenotypes
62 annotations · validated 2021-06-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0010734 | Fibrous dysplasia of the bones | |
| Very frequent (99-80%) | ||
| HP:0009121 | Abnormal axial skeleton morphology | |
| HP:0003330 | Abnormal bone structure | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0040064 | Abnormality of limbs | |
| HP:0002797 | Osteolysis | |
| Frequent (79-30%) | ||
| HP:0010668 | Abnormal zygomatic bone morphology | |
| HP:0011821 | Abnormality of facial skeleton | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0000277 | Abnormality of the mandible | |
| HP:0000326 | Abnormality of the maxilla | |
| HP:0031955 | Antalgic gait | |
| HP:0002653 | Bone pain | |
| HP:0006487 | Bowing of the long bones | |
| HP:0005731 | Cortical irregularity | |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration | |
| HP:0002148 | Hypophosphatemia | |
| HP:0010657 | Patchy reduction of bone mineral density | |
| HP:0002756 | Pathologic fracture | |
| HP:0002748 | Rickets | |
| HP:0002753 | Thin bony cortex | |
| Occasional (29-5%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0100712 | Abnormal lumbar spine morphology | |
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0002696 | Abnormal parietal bone morphology | |
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0009911 | Abnormal temporal bone morphology | |
| HP:0003319 | Abnormality of the cervical spine | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0430000 | Abnormality of the frontal bone | |
| HP:0012294 | Abnormality of the occipital bone | |
| HP:0430022 | Abnormality of the sphenoid sinus | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0002812 | Coxa vara | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0006316 | Irregularly spaced teeth | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0002749 | Osteomalacia | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| Very rare (<4-1%) | ||
| HP:0000818 | Abnormality of the endocrine system | |
| HP:0030428 | Cutaneous myxoma | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000845 | Elevated circulating growth hormone concentration | |
| HP:0000365 | Hearing impairment | |
| HP:0003072 | Hypercalcemia | |
| HP:0010514 | Hyperpituitarism | |
| HP:0000836 | Hyperthyroidism | |
| HP:0003118 | Increased circulating cortisol level | |
| HP:0005605 | Large cafe-au-lait macules with irregular margins | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0002669 | Osteosarcoma | |
| HP:0000138 | Ovarian cyst | |
| HP:0003401 | Paresthesia | |
| HP:0010465 | Precocious puberty in females | |
| HP:0010788 | Testicular neoplasm | |
| HP:0002890 | Thyroid carcinoma | |
| HP:0000572 | Visual loss | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 23276185[PMID]_27492469[PMID]_27493082[PMID]_30471134[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/249
- This record as JSON: /data/d/249.json