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Хвороба Камураті-Енгельмана

ORPHA:1328· ICD-10 Q78.3· Camurati-Engelmann disease

Визначення(English summary)

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Adolescent, Adult, Childhood