Multisystemic smooth muscle dysfunction syndrome

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Multisystemic smooth muscle dysfunction syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Multisystemic smooth muscle dysfunction syndrome?

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