Humerus trochlea aplasia

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.

Disease data

Classification

Malformation syndrome

ORPHA code

3383

OMIM code

191000

ICD10 code

Q74.0

ICD11 code

*Soruce