Short answer · Medically reviewed summary · Last updated: 2026-05-08
Loeys-Dietz syndrome (LDS) is a connective tissue disorder primarily known by its eponymous name, though it is occasionally referred to as Loeys-Dietz aortic-aneurysm syndrome. Medical professionals and researchers almost exclusively use the term Loeys-Dietz syndrome to ensure clinical accuracy and avoid confusion with other connective tissue disorders like Marfan syndrome. Why does Loeys-Dietz syndrome have different names? The naming of Loeys-Dietz syndrome reflects its relatively recent characterization in 2005 by Dr.
3 people with Loeys Dietz syndrome have shared their first-person experience on this question at DiseaseMaps.
Loeys Dietz syndrome synonyms
Other names for Loeys Dietz syndrome: synonyms, acronyms and related terms used by doctors and patients.
Loeys-Dietz syndrome (LDS) is a connective tissue disorder primarily known by its eponymous name, though it is occasionally referred to as Loeys-Dietz aortic-aneurysm syndrome. Medical professionals and researchers almost exclusively use the term Loeys-Dietz syndrome to ensure clinical accuracy and avoid confusion with other connective tissue disorders like Marfan syndrome.
Why does Loeys-Dietz syndrome have different names?
The naming of Loeys-Dietz syndrome reflects its relatively recent characterization in 2005 by Dr. Bart Loeys and Dr. Harry Dietz. Because it was identified through specific genetic mutations (such as TGFBR1 or TGFBR2), it does not carry the historical, descriptive names often found in conditions recognized in the 19th century. Sometimes, older medical records may group Loeys-Dietz syndrome under the umbrella of "familial thoracic aortic aneurysm and dissection" (FTAAD), but this is a broad category rather than a specific synonym.
What are the official classifications for Loeys-Dietz syndrome?
To navigate medical literature and insurance records, it is helpful to know how Loeys-Dietz syndrome is indexed in global databases:
- OMIM (Online Mendelian Inheritance in Man): #609192, #610168, #610380, #613795, #614816, #615582 (reflecting different genetic types).
- Orphanet: ORPHA98828.
- ICD-10-CM: Q87.4 (often used for Marfanoid syndromes, though specific codes for Loeys-Dietz syndrome are evolving).
Which name should patients use?
When communicating with healthcare providers or searching for support, Loeys-Dietz syndrome is the universally accepted terminology. Using this specific name helps researchers at organizations like DiseaseMaps.org—where 208 members currently share their experiences—connect you with the most relevant clinical data. Avoid using outdated terms like "Marfan-like syndrome," as Loeys-Dietz syndrome has distinct clinical management protocols, particularly regarding vascular surveillance.
Next steps
- Consult a genetic counselor to confirm your specific subtype of Loeys-Dietz syndrome.
- Join the 208 members on DiseaseMaps.org to share your journey and learn from others.
- Request a referral to a center specializing in connective tissue disorders for regular aortic imaging.
Medical disclaimer: This content is for informational purposes only and does not constitute medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider.
References
- National Institutes of Health (NIH) GARD: Loeys-Dietz syndrome.
- Orphanet: Rare disease database entry for Loeys-Dietz syndrome.
- OMIM: Online Mendelian Inheritance in Man database entries for TGFBR-related disorders.
- The Loeys-Dietz Syndrome Foundation: Official patient education resources.
Posted Feb 6, 2018 by Helene 1600
Posted May 12, 2019 by Derek 4050
Connective tissues disorder
Loeys-Dietz syndrome is a recently-described connective tissue disorder with features similar to those of Marfan syndrome, and the vascular type of Ehlers-Danlos syndrome. Loeys-Dietz syndrome is primarily characterized by aortic aneurysms (weakened outpouchings of the aorta, the main artery in the body) in children.
Posted May 14, 2019 by Glenn 2500
