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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