Genochondromatosis type 2

Orpha code: 93398OMIM code: 137360

Definicja

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
Klasyfikacja

Disease

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

No additional description.

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