Genochondromatosis type 2

Orpha code: 93398OMIM code: 137360

Definition

Genochondromatosis type 2 is a rare genetic bone development disorder characterized by normal clavicles and symmetrical, generalized metaphyseal enchondromas, particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign.

Disease data
Classification

Disease

ORPHA code
93398
OMIM code
137360
ICD10 code
Q78.4
ICD11 code
-

No additional description.

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