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Arterial tortuosity syndrome

Summary

Excerpted from the GeneReview: Arterial Tortuosity Syndrome
Arterial tortuosity syndrome (ATS) is characterized by widespread elongation and tortuosity of the aorta and mid-sized arteries as well as focal stenosis of segments of the pulmonary arteries and/or aorta combined with findings of a generalized connective tissue disorder, which may include soft or doughy hyperextensible skin, joint hypermobility, inguinal hernia, and diaphragmatic hernia. Skeletal findings include pectus excavatum or carinatum, arachnodactyly, scoliosis, knee/elbow contractures, and camptodactyly. The cardiovascular system is the major source of morbidity and mortality with increased risk at any age for aneurysm formation and dissection both at the aortic root and throughout the arterial tree, and for ischemic vascular events involving cerebrovascular circulation (resulting in non-hemorrhagic stroke) and the abdominal arteries (resulting in infarctions of abdominal organs).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Bert Callewaert
Anne De Paepe
Paul Coucke
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Available tests

87 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (87 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATORS, ATS, GLUT10, SLC2A10
    Summary: solute carrier family 2 member 10

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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