Arterial tortuosity syndrome
A rare autosomal recessive 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023
Newly diagnosed with
Arterial tortuosity syndrome?
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Myhre Syndrome Foundation
Myhre Syndrome Foundation is a patient advocacy organization dedicated to providing hope and improving the lives of those impacted by Myhre syndrome.
Oklahoma Rare is a collaborative community started by 2 parents of children diagnosed with rare diseases (both experienced advocates with history of working in the developmental disability and rare disease communities) created to share resources, advocacy opportunities and connection within the Oklahoma Rare Disease community.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
For a list of clinical trials in this disease area, please click here.