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Arterial tortuosity syndrome

Disease definition

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ORPHA:3342

  • Synonym(s):
    • ATS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: I77.1
  • OMIM: 208050
  • UMLS: -
  • MeSH: -
  • GARD: 774
  • MedDRA: -

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