Macrostomia-preauricular tags-external ophthalmoplegia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrostomia-preauricular tags-external ophthalmoplegia syndrome | |
| fr | Syndrome de macrostomie-anomalies préauriculaires-ophtalmoplégie externe | |
| de | Makrostomie-präaurikuläre Anhängsel-externe Ophthalmoplegie-Syndrom | |
| es | Síndrome de macrostomia-apéndices preauriculares-oftalmoplejía externa | |
| it | Sindrome macrostomia-appendici preauricolari-oftalmoplegia esterna | |
| nl | Macrostomie - preauriculaire aanhangsels - externe oftalmoplegie-syndroom | |
| pt | Macrostomia - apêndices pré-auriculares - oftalmoplegia externa | |
| pl | Makrostomia - przeduszne naddatki skórne - oftalmoplegia zewnętrzna | |
| cs | Syndrom zahrnující makrostomii, preaurikulární výběžky a zevní oftalmoplegii | |
| uk | Синдром макростомії-преаурикулярних міток-зовнішньої офтальмоплегії | |
| zh | 巨口畸形-耳前赘-眼外肌麻痹综合征 | |
| tr | Makrostomi-preauriküler etiketler-eksternal oftalmopleji sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0019387 | E | validated | |
| UMLS | C4509840 | 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 (2):
- 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
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 | 9 cases | Worldwide | Case(s) | Validated | 16854200[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16854200[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0011338 | Abnormality of mouth shape | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0004467 | Preauricular pit | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000508 | Ptosis | |
| Occasional (29-5%) | ||
| HP:0000316 | Hypertelorism | |
| HP:0011272 | Underdeveloped tragus | |
| HP:0000154 | Wide mouth | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83619
- This record as JSON: /data/d/83619.json