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Loeys-Dietz syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Loeys-Dietz syndrome

MONDO:0018954

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

Find Clinical TrialsTrials

Overview

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.

OnsetCONGENITAL, ADULT, LATE

Clinical Trials6 registered · 4 recruiting

Patient Orgs1 organizations · Loeys-Dietz Syndrome Foundation

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Patent ductus arteriosus, Pes planus, Vascular dilatation, and Aortic dissection and others; and common findings: Tall stature, Cleft palate, Bifid uvula, and Orofacial cleft and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4	Aortic dissection, Aortic aneurysm, Mitral regurgitation

Diagnosis

Biomarker and diagnostic research for Loeys-Dietz syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 very common features, 17 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

6 clinical trials registered, 4 recruiting. Interventions under study include other interventions and medical devices. Pipeline includes 1 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT06546137](https://clinicaltrials.gov/study/NCT06546137)

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:40 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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Loeys-Dietz Syndrome FoundationPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

Orphanet

European rare disease database

Orphanet:60030

GARD

Genetic and Rare Diseases Info Center

GARD:10788

Questions for Your Care Team

→Are any of the 6 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with Loeys-Dietz Syndrome Foundation and other patient organizations for support?

← Back to All Diseases

Research Type	Count	% of Total
Patient case studies	70	39%
Disease patterns and progression	29	16%
Research summaries	28	16%
Laboratory research	25	14%
Other research	9	5%
Testing and diagnosis research	9	5%
Clinical study results	9	5%

Kisho

Loeys-Dietz syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

"Alone we are rare, together we are strong!": Rare Disease Day Advocacy 2026 - Marfan Foundation

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.

Loeys-Dietz syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Patient Support

Patient Advocacy Groups

Medical References

External Resources

Orphanet

GARD

Subtypes

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

Latest News & Developments

"Alone we are rare, together we are strong!": Rare Disease Day Advocacy 2026 - Marfan Foundation

A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.