Oculoauricular syndrome, Schorderet type

Orpha code: 157962OMIM code: 612109

Definition

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).

Disease data
Classification

Malformation syndrome

ORPHA code
157962
OMIM code
612109
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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