Microtia - eye coloboma - imperforation of the nasolacrimal duct
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Balikova-Vermeesch syndrome |
| Number of Symptoms | 5 |
| OrphanetNr: | 139450 |
| OMIM Id: |
611863
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| ICD-10: |
Q15.8 |
| 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: | 1 family [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare eye disease due to a differentiation anomaly
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000479) | Abnormality of the retina | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000632) | Lacrimation abnormality | Very frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0000612) | Iris coloboma | Frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0008551) | Microtia | 98 / 7739 | ||||
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(HPO:0008772) | Aplasia/Hypoplasia of the external ear | Very frequent [Orphanet] | 67 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM | Balikova et al. (2008) studied a large family with autosomal dominant inheritance of microtia and nasolacrimal duct imperforation associated with variable degrees of eye coloboma. |