What's Loeys-Dietz syndrome?
Loeys-Dietz syndrome is an inherited connective tissue disorder affecting the blood vessels, skeleton, and skin, with a high risk of aortic aneurysms and dissections.
| Features mapped | 6 |
|---|---|
| Treatments mapped | 1 |
| Published sources | 6 |
| Last reviewed | 2026-08-04 |
Signs and symptoms
Arterial dissection
Loeys-Dietz syndrome features aggressive aneurysm formation and arterial dissections (tears in the wall of an artery).
Aortic aneurysm
Aneurysms (bulges) of the aorta are a central, life-threatening feature of Loeys-Dietz syndrome.
Arterial tortuosity
The arteries can become twisted and tortuous (arterial tortuosity) in Loeys-Dietz syndrome.
Hypertelorism
Hypertelorism (widely spaced eyes) is one of the features considered specific to Loeys-Dietz syndrome, along with arterial tortuosity, widespread aortic aneurysm, and cleft palate or a split (bifid) uvula.
Bifid uvula
A bifid uvula (a split in the small tissue that hangs at the back of the throat) can occur in Loeys-Dietz syndrome, which is also distinguished by generalized arterial tortuosity and aneurysms and, at times, widely spaced eyes (hypertelorism).
Scoliosis
Curvature of the spine (scoliosis) is the most common spinal problem in Loeys-Dietz syndrome.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
aortic surgical repair
In Loeys-Dietz syndrome, surgical repair is often needed, most commonly of the ascending and abdominal aorta.
Used to help with: Aortic aneurysm.
“…required surgical repair, predominantly involving the ascending and abdominal aorta.”
How to read the evidence labels
Where this comes from
This guide is built from 6 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.
Take it further
Printed, source-linked documents built from this condition's graph — ready to bring to an appointment or attach to a coverage request. Every claim carries its published source, the same as this guide.