ORPHA:141132
Craniofacial microsomia
Synonyms: OAVS · OAV spectrum · Oculoauriculovertebral spectrum · Oculo-auriculo-vertebral spectrum
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniofacial microsomia | OAVS · OAV spectrum · Oculoauriculovertebral spectrum · Oculo-auriculo-vertebral spectrum |
| fr | Microsomie craniofaciale | Spectre OAV · Spectre oculoauriculovertébral · OAVS |
| de | Kraniofaziale Mikrosomie | Okulo-aurikulo-vertebrales Spektrum · OAV-Spektrum · OAVS |
| es | Microsomía craneofacial | Espectro OAV · Espectro oculoauriculovertebral · Espectro óculo-aurículo-vertebral |
| it | Microsomia craniofacciale | Spettro oculo-auricolo-vertebrale · OAVS · Spettro OAV · Spettro oculoauricolovertebrale |
| nl | Craniofaciale microsomie | OAVS · OAV-spectrum · Oculoauriculovertebraal spectrum · Oculo-auriculo-vertebraal spectrum |
| pt | Espectro clínico oculo-auriculo-vertebral | |
| pl | Spektrum oczno-uszno-kręgowe | Jednostronna lub obustronna i asymetryczna dysplazja uszno-żuchwowa · Spektrum OAV |
| cs | Okulo-aurikulo-vertebrální spektrum | OAV spektrum · Unilaterální nebo bilaterální a asymetrická otomandibulární dysplázie |
| uk | Окуло-аурикуло-вертебральний спектр | Синдром Гольденхара · Спектр OAV · Окулоаурикуловертебральний спектр |
| zh | 眼-耳-脊柱谱系异常 | 眼-耳-脊柱序列征 |
| tr | Okülo-aurikulo-vertebral spektrum | OAV spektrumu · Oküloaurikulovertebral spektrum |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164210 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD2F.16 | NTBT | index | validated |
| UMLS | C0265240 | E | validated | |
| GARD | 12074 | E | validated | |
| MedDRA | 10051934 | 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 (6):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - 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:155896Otomandibular dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:519329Rare disorder involving multiple structures of the eye
rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:374Goldenhar syndrome moved to · inactive
- ORPHA:141136Otomandibular syndrome moved to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
5 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 4 / 100 000 | Japan | Value and class | Validated | 2092586[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.65 / 100 000 | France | Value and class | Validated | 22925539[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 11.7 / 100 000 | Australia | Value and class | Validated | 34626670[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.
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HPO phenotypes
29 annotations · validated 2024-09-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011332 | Hemifacial hypoplasia | |
| HP:0001140 | Limbal dermoid | |
| HP:0000384 | Preauricular skin tag | |
| Frequent (79-30%) | ||
| HP:0012210 | Abnormal renal morphology | |
| HP:0009118 | Aplasia/Hypoplasia of the mandible | |
| HP:0009117 | Aplasia/Hypoplasia of the maxilla | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000365 | Hearing impairment | |
| HP:0002937 | Hemivertebrae | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0002650 | Scoliosis | |
| HP:0002414 | Spina bifida | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0009892 | Anotia | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002308 | Chiari malformation | |
| HP:0000589 | Coloboma | |
| HP:0033792 | Cross bite | |
| HP:0000678 | Dental crowding | |
| HP:0000238 | Hydrocephalus | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0001561 | Polyhydramnios | |
| HP:0002781 | Upper airway obstruction | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 29847352[PMID]_35110414[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141132
- This record as JSON: /data/d/141132.json