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Multisystemic smooth muscle dysfunction syndrome

Disease 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.

ORPHA:404463

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy
  • ICD-10: I73.8
  • OMIM: 613834
  • UMLS: -
  • MeSH: -
  • GARD: 12811
  • MedDRA: -

Additional information

Further information on this disease

Specialised Social Services

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