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Humerus trochlea aplasia

ORPHA:3383· ICD-10 Q74.0

Definition

An extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.

Prevalence
<1 / 1 000 000
Age of onset
Neonatal