ORPHA:1427
Autosomal recessive otospondylomegaepiphyseal dysplasia
Synonyms: OSMED
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive otospondylomegaepiphyseal dysplasia | OSMED |
| fr | Dysplasie oto-spondylo-mégaépiphysaire autosomique récessive | = en |
| de | Oto-spondylo-megaepiphysäre Dysplasie, autosomal-rezessive | |
| es | Displasia oto-espondilo-megaepifisaria | = en |
| it | Displasia oto-spondilo-megaepifisaria autosomica recessiva | = en |
| nl | Autosomaal recessieve otospondylomega-epifysaire dysplasie | = en |
| pt | Displasia oto-espondilo-megaepifísária | = en |
| pl | Dysplazja uszno - kręgowo-wielkonasadowa | OSMED · Autosomalna recesywna dysplazja uszno-kręgowa-wielkonasadowa |
| cs | Otospondylomegaepifyzární dysplázie | = en |
| uk | Отоспондиломегаепіфізарна дисплазія | = en |
| zh | 大耳脊椎骨骺发育不良 | = en |
| tr | Otospondilomegaepifizal displazi | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215150 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0008975 | E | validated | |
| UMLS | C4520892 | E | validated | |
| GARD | 4130 | E | validated | |
| MedDRA | 10084407 | 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 (3):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93422Type 11 collagen-related bone disorder
rare genetic diseases - ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL11A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2187 | ENSG00000204248 | 120290 | 6p21.32 | collagen type XI alpha 2 chain | 10677296[PMID]_21438135[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
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HPO phenotypes
43 annotations · validated 2021-06-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001367 | Abnormal joint morphology | |
| HP:0040163 | Abnormal pelvis bone morphology | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0003498 | Disproportionate short stature | |
| HP:0011800 | Midface retrusion | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0011314 | Abnormality of long bone morphology | |
| HP:0011867 | Abnormality of the wing of the ilium | |
| HP:0000193 | Bifid uvula | |
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | |
| HP:0006375 | Dumbbell-shaped femur | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0012368 | Flat face | |
| HP:0009826 | Limb undergrowth | |
| HP:0000347 | Micrognathia | |
| Occasional (29-5%) | ||
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0003037 | Enlarged joints | |
| HP:0010502 | Fibular bowing | |
| HP:0002834 | Flared femoral metaphysis | |
| HP:0000162 | Glossoptosis | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0002758 | Osteoarthritis | |
| HP:0000926 | Platyspondyly | |
| HP:0001561 | Polyhydramnios | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000520 | Proptosis | |
| HP:0001852 | Sandal gap | |
| HP:0010049 | Short metacarpal | |
| HP:0000470 | Short neck | |
| HP:0009803 | Short phalanx of finger | |
| HP:0002982 | Tibial bowing | |
| Very rare (<4-1%) | ||
| HP:0000540 | Hypermetropia | |
| HP:0025573 | Mild myopia | |
| HP:0000486 | Strabismus | |
| Excluded (0%) | ||
| HP:0000518 | Cataract | |
| HP:0007964 | Degenerative vitreoretinopathy | |
| HP:0011003 | High myopia | |
| HP:0000541 | Retinal detachment | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 32341816[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1427
- This record as JSON: /data/d/1427.json