ORPHA:1263
Boomerang dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Boomerang dysplasia | |
| fr | Dysplasie en boomerang | |
| de | Boomerang-Dysplasie | |
| es | Displasia en boomerang | |
| it | Displasia, tipo boomerang | |
| nl | Boemerang-dysplasie | |
| pt | Displasia boomerang | |
| pl | Dysplazja Boomeranga | |
| cs | Bumerang dysplázie | |
| uk | Бумерангова дисплазія | |
| zh | 回飞镖样骨发育不全症 | |
| tr | Boomerang displazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112310 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | index | validated |
| MONDO | 0007208 | E | validated | |
| MeSH | C536573 | E | validated | |
| UMLS | C0432201 | E | validated | |
| GARD | 933 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93425Filamin-related bone disorder
rare genetic diseases - ORPHA:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:156723Piepkorn dysplasia moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNB | Disease-causing germline mutation(s) in | Assessed | HGNC:3755 | ENSG00000136068 | 603381 | 3p14.3 | filamin B | 20301736[PMID]_15994868[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 15994868[PMID]_22354125[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15994868[PMID]_22354125[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.
6
HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011849 | Abnormal bone ossification | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0006492 | Aplasia/Hypoplasia of the fibula | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0100856 | Poorly ossified vertebrae | |
| HP:0008890 | Severe short-limb dwarfism | |
| Frequent (79-30%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0000028 | Cryptorchidism | |
| HP:0006101 | Finger syndactyly | |
| HP:0001789 | Hydrops fetalis | |
| HP:0001539 | Omphalocele | |
| HP:0001561 | Polyhydramnios | |
| Occasional (29-5%) | ||
| HP:0040071 | Abnormal morphology of ulna | |
Run the differential on the 9 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1263
- This record as JSON: /data/d/1263.json