Синдром мультисистемної дисфункції гладких мязів
ORPHA:404463· ICD-10 I73.8· Multisystemic smooth muscle dysfunction syndrome
Визначення(English summary)
A rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Unknown
- Вік початку
- Infancy