Dysplasia epiphysealis hemimelica

Orpha code: 1822OMIM code: 127800

Definition

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
Classification

Malformation syndrome

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

No additional description.

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