Dysplasia epiphysealis hemimelica

Orpha code: 1822OMIM code: 127800

Definicja

A rare bone development disorder characterized by localized, asymmetric osteochondral overgrowth affecting single or multiple epiphyses, most commonly the distal femur, proximal tibia, and talus. The lesions are typically restricted to one side of the epiphysis, with the medial side being affected twice as often as the lateral side. The condition is usually diagnosed in children, and three times more often in boys than in girls. Patients present with pain, limitation in range of motion, and deformity or swelling of the affected joint.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Trevor disease
Choroba Trevora
Kod ORPHA
1822
Kod OMIM
127800
Kod ICD10
Q74.8
Kod ICD11
LD24.2Y

No additional description.

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