Macrostomia - preauricular tags - external ophthalmoplegia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 8 |
| OrphanetNr: | 83619 |
| OMIM Id: |
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| ICD-10: |
Q87.0 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 9 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000154) | Wide mouth | Occasional [Orphanet] | 137 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Occasional [Orphanet] | 644 / 7739 | |||
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(HPO:0000153) | Abnormality of the mouth | Frequent [Orphanet] | 60 / 7739 | |||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000597) | Ophthalmoparesis | Frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0000384) | Preauricular skin tag | Frequent [Orphanet] | 62 / 7739 | |||
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(HPO:0009912) | Abnormality of the tragus | Occasional [Orphanet] | 12 / 7739 | |||
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(HPO:0200040) | Epidermoid cyst | Occasional [Orphanet] | 35 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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