ORPHA:166100
Autosomal dominant otospondylomegaepiphyseal dysplasia
Synonyms: AD OSMED · Stickler syndrome type 3 · Stickler syndrome, non-ocular type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant otospondylomegaepiphyseal dysplasia | AD OSMED · Stickler syndrome type 3 · Stickler syndrome, non-ocular type |
| fr | Dysplasie oto-spondylo-mégaépiphysaire autosomique dominante | OSMED AD · Syndrome de Stickler type 3 · Syndrome de Stickler type non oculaire |
| de | Oto-spondylo-megaepiphysäre Dysplasie, autosomal-dominante | AD OSMED · Stickler-Syndrom Typ 3 · Stickler-Syndrom, nicht-okulärer Typ |
| es | Displasia oto-espondilo-megaepifisaria autosómica dominante | OSMED autosómica dominante · Síndrome de Stickler tipo 3 · Síndrome de Stickler tipo no ocular |
| it | Sindrome di Stickler, tipo 3 | Sindrome di Stickler, tipo non oculare |
| nl | Autosomaal dominante otospondylomega-epifysaire dysplasie | AD OSMED · Syndroom van Stickler type 3 · Syndroom van Stickler, niet-oculair type |
| pt | Displasia oto-espondilo-megaepifisária autossómica dominante | Síndrome Stickler tipo 3 |
| pl | Zespół Sticklera typu 3 | Stickler syndrome, nonocular type |
| cs | Sticklerův syndrom, typ 3 | Sticklerův syndrom, forma bez postižení zraku |
| uk | Аутосомно-домінантна отоспондиломегаепіфізарна дисплазія | AD OSMED · Синдром Стіклера, тип 3 · Синдром Стіклера, неочний тип |
| zh | 常染色体显性遗传性骨骺发育不良 | 斯蒂克勒综合征非眼型 |
| tr | Otozomal dominant otospondilomegaepifizeal displazi | AD OSMED · Stickler sendromu tip 3 · Stickler sendromu, oküler olmayan tip |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184840 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0008490 | E | validated | |
| MeSH | C537494 | E | validated | |
| UMLS | C1861481 | 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 (7):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:138041Pierre Robin syndrome associated with collagen disease
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - 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
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3450Weissenbacher-Zweymuller syndrome moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Candidate gene tested in | Not yet assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 16189708[PMID]_21438135[PMID] |
| COL11A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2187 | ENSG00000204248 | 120290 | 6p21.32 | collagen type XI alpha 2 chain |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0000175 | Cleft palate | |
| HP:0000343 | Long philtrum | |
| HP:0000272 | Malar flattening | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0000162 | Glossoptosis | |
| HP:0000347 | Micrognathia | |
| HP:0002758 | Osteoarthritis | |
| Occasional (29-5%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0100777 | Exostoses | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166100
- This record as JSON: /data/d/166100.json