Syndromic orbital border hypoplasia
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Urrets-Zavalia syndrome
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Number of Symptoms
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10
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OrphanetNr:
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98606
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OMIM Id:
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165600
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ICD-10:
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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:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal dominant inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Excretory apparatus of the lacrimal system anomaly
-Rare eye disease
-Rare genetic disease
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1
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(HPO:0000652)
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Lower eyelid coloboma |
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9 / 7739
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2
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(HPO:0000564)
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Lacrimal duct atresia |
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4 / 7739
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3
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(HPO:0007647)
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Congenital extraocular muscle anomaly |
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1 / 7739
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4
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(OMIM)
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Hypoplasia of the palpebral skin and tarsal plates |
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1 / 7739
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5
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(OMIM)
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Orbital margin hypoplasia |
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1 / 7739
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6
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(OMIM)
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Short or absent inferior canaliculi |
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1 / 7739
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7
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(OMIM)
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Variable lacrimal passage defects |
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1 / 7739
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8
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(HPO:0000006)
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Autosomal dominant inheritance |
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2518 / 7739
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9
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(OMIM)
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Supernumerary canaliculi |
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1 / 7739
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10
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(OMIM)
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Ectopic or elongated lower lacrimal punctum |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |