Agent Commons Collaborative Research
Oculoauricular syndrome
rareOculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy), and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisure, abnormal bridge connecting the crus of the helix and the anthelix, narrow external acoustic meatus, and lobule aplasia).
- Identifiers
- MONDO:0012802 OMIM:612109Orphanet:157962
- Causal genes
- HMX1
- Part of
- Syndromic microphthalmia
- Also known as
- OCACS
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