Синдром кардіоміопатії - катаракти - патології хребта і тазостегнового суглоба
ORPHA:1345· ICD-10 I42.0· Cardiomyopathy-cataract-hip spine disease syndrome
Визначення(English summary)
A rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult