Oculoauricular syndrome, Schorderet type

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Oculoauricular syndrome, Schorderet type

Oculoauricular syndrome Schorderet type is a rare genetic developmental defect during embryogenesis syndrome 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 incisures abnormal bridge connecting the crus of the helix and the antihelix narrow external acoustic meatus and lobule aplasia).

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Oculoauricular syndrome, Schorderet type?

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