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Stapes ankylosis with broad thumbs and toes

ORPHA:140917· ICD-10 Q87.8

Definition

Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Infancy, Neonatal