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Genochondromatosis type 1

ORPHA:85197· ICD-10 Q78.4

Definition

A rare disorder characterized by chondromatosis, typically involving the clavicles, upper end of the humerus, and lower end of the femur. Lesions are bilateral and symmetrical. The clinical course is benign.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant
Age of onset
Childhood