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Окулоаурикулярний синдром, тип Шордера

ORPHA:157962· ICD-10 Q87.8· Oculoauricular syndrome, Schorderet type

Визначення(English summary)

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).

Поширеність
<1 / 1 000 000
Успадкування
Autosomal recessive
Вік початку
Infancy, Neonatal