Loeys-Dietz syndrome

MONDO:0018954

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

Also known as: Loeys-Dietz syndrome, aortic aneurysm syndrome due to TGF-beta receptors anomalies, aortic aneurysm syndrome, Loeys-Dietz type

6 clinical trials for this condition and its sub-types, 6 tagged with Loeys-Dietz syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Vascular disorder (10728) ↑ Syndromic disease (7158) ↑ Autosomal dominant disease (699) ↑ Marfan and Marfan-related disorder (22)

Sub-types of Loeys-Dietz syndrome

Loeys-Dietz syndrome 1 0 trials
Loeys-Dietz syndrome 2 0 trials
Loeys-Dietz syndrome 4 0 trials
Loeys-Dietz syndrome 6 0 trials
Rienhoff syndrome 0 trials
Aneurysm-osteoarthritis syndrome 0 trials

Including sub-types (6) Tagged with Loeys-Dietz syndrome (6)

Trials to join now! 4 Not yet finished but already full! 1 Completed 1

Scientists hunt for hidden genes behind aortic aneurysms

Knowledge-focused Ongoing

This study aims to uncover the genetic roots of aortic aneurysms and valve disease by analyzing tissue and blood samples from 3,000 participants. Researchers will look for new disease-causing genes and factors that affect disease severity. The goal is to build a biorepository to …

Sponsor: Yale University • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:04 UTC

Loeys-Dietz syndrome

Where it sits in the disease tree

Scientists hunt for hidden genes behind aortic aneurysms