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