Multisystemic smooth muscle dysfunction syndrome

Orpha code: 404463OMIM code: 613834

Definition

Multisystemic smooth muscle dysfunction syndrome is 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.

Disease data
Classification

Disease

ORPHA code
404463
OMIM code
613834
ICD10 code
I73.8
ICD11 code
-

No additional description.

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