Familial osteodysplasia, Anderson type
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Familial osteodysplasia, Anderson type is a rare, genetic dysostosis disorder characterized by craniofacial bone abnormalities (i.e. midface hypoplasia, broad, flat nasal bridge, narrow, thin prognathic mandible with pointed chin, malocclusion, partial dental agenesis) associated with additional osseous anomalies, including scoliosis, calvarial thinning, pointed spinous processes, clinodactyly and abnormal phalanges. Elevated erythrocyte sedimentation rate, hyperuricemia and hypertension have also been reported. There have been no further descriptions in the literature since 1982.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial osteodysplasia, Anderson type | |
| fr | Ostéodysplasie familiale type Anderson | |
| de | Osteodysplasie, familiäre, Typ Anderson | |
| es | Osteodisplasia familiar, tipo Anderson | |
| it | Osteodisplasia familiare, tipo Anderson | |
| nl | Familiale osteodysplasie, Anderson-type | |
| pt | Osteodisplasia familiar, tipo Anderson | |
| pl | Rodzinna osteodysplazja typu Andersona | |
| cs | Familiární osteodysplázie, Andersonův typ | |
| uk | Сімейна остеодисплазія, тип Андерсона | |
| zh | 家族性骨发育不良，Anderson型 | |
| tr | Ailesel osteodisplazi, Anderson tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259250 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD25.3 | NTBT | index | validated |
| MONDO | 0009801 | E | validated | |
| MeSH | C564923 | E | validated | |
| UMLS | C1850186 | E | validated | |
| GARD | 4136 | 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 (1):
- ORPHA:93453Dysostosis with predominant craniofacial involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 5067603[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5067603[PMID] |
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
31 annotations · validated 2017-09-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000309 | Abnormal midface morphology | |
| HP:0010668 | Abnormal zygomatic bone morphology | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0005613 | Aplasia/hypoplasia of the femur | |
| HP:0006660 | Aplastic clavicles | |
| HP:0010443 | Bifid femur | |
| HP:0000414 | Bulbous nose | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0006352 | Failure of eruption of permanent teeth | |
| HP:0000822 | Hypertension | |
| HP:0002149 | Hyperuricemia | |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0002808 | Kyphosis | |
| HP:0009748 | Large earlobe | |
| HP:0003189 | Long nose | |
| HP:0000272 | Malar flattening | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000307 | Pointed chin | |
| HP:0000448 | Prominent nose | |
| HP:0002757 | Recurrent fractures | |
| HP:0002650 | Scoliosis | |
| HP:0000574 | Thick eyebrow | |
| HP:0000692 | Tooth malposition | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000670 | Carious teeth | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000921 | Missing ribs | |
| Occasional (29-5%) | ||
| HP:0003042 | Elbow dislocation | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2769
- This record as JSON: /data/d/2769.json