Мультицентричний карпо-тарзальний остеоліз з нефропатією або без неї
ORPHA:2774· ICD-10 M89.5· Multicentric carpo-tarsal osteolysis with or without nephropathy
Визначення(English summary)
A very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.
- Поширеність
- Unknown
- Успадкування
- Autosomal dominant
- Вік початку
- Childhood