Short answer · Medically reviewed summary · Last updated: 2026-05-08
Arterial Tortuosity Syndrome (ATS) is a rare connective tissue disorder primarily known by its official clinical name, though it is occasionally referred to as Loeys-Dietz syndrome type 1A in older or overlapping literature. The condition is formally classified under the medical term Arterial Tortuosity Syndrome, which accurately describes the characteristic elongation and twisting of the major arteries. What are the common synonyms for Arterial Tortuosity Syndrome? While Arterial Tortuosity Syndrome is the current standard nomenclature, you may encounter several alternative names in medical records or historical research.
1 people with Arterial Tortuosity Syndrome have shared their first-person experience on this question at DiseaseMaps.
Arterial Tortuosity Syndrome synonyms
Other names for Arterial Tortuosity Syndrome: synonyms, acronyms and related terms used by doctors and patients.
Arterial Tortuosity Syndrome (ATS) is a rare connective tissue disorder primarily known by its official clinical name, though it is occasionally referred to as Loeys-Dietz syndrome type 1A in older or overlapping literature. The condition is formally classified under the medical term Arterial Tortuosity Syndrome, which accurately describes the characteristic elongation and twisting of the major arteries.
What are the common synonyms for Arterial Tortuosity Syndrome?
While Arterial Tortuosity Syndrome is the current standard nomenclature, you may encounter several alternative names in medical records or historical research. These include:
- Arterial tortuosity of the head, neck, and limbs
- ATS (the most common medical abbreviation)
- Loeys-Dietz syndrome type 1A (though this is technically a distinct but related genetic spectrum)
- Tortuosity of the arteries
Why does Arterial Tortuosity Syndrome have multiple names?
The naming of Arterial Tortuosity Syndrome has evolved as genetic testing has advanced. Historically, many connective tissue disorders with overlapping features were grouped together. As researchers identified the specific mutation in the SLC2A10 gene, Arterial Tortuosity Syndrome was clearly defined as a distinct clinical entity. Older literature may use broader terms, which can be confusing for patients navigating their diagnosis today.
How is the condition classified in medical databases?
For official documentation and research, medical professionals rely on standardized classification codes to ensure consistency. You will find Arterial Tortuosity Syndrome indexed using the following identifiers:
- OMIM: #208050
- Orphanet: ORPHA85124
- ICD-10/11: Often coded under Q28.8 (Other specified malformations of circulatory system) or related connective tissue disorder categories.
Which name should patients use?
The medical community, including specialists at DiseaseMaps.org, prefers the term Arterial Tortuosity Syndrome. Using this specific name ensures that your healthcare providers, geneticists, and insurance companies are accessing the most accurate and up-to-date clinical guidelines for management and surveillance.
Next steps
- Confirm your diagnosis through genetic testing for the SLC2A10 gene mutation.
- Consult with a vascular surgeon or cardiologist familiar with Arterial Tortuosity Syndrome.
- Connect with the 7 other members on DiseaseMaps.org to share experiences and coping strategies.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; please consult a qualified healthcare professional for diagnosis and treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Arterial Tortuosity Syndrome
- Online Mendelian Inheritance in Man (OMIM): Entry #208050
- Orphanet: Rare Disease Database (ORPHA85124)
- PubMed: Clinical and genetic spectrum of SLC2A10-related disorders
Posted Mar 10, 2018 by Andrea Taylor 2500
