Living with Loeys-Dietz syndrome 4
A genetic condition that affects blood vessels, bones, face, and skin, with a higher chance of allergy and digestive inflammation.
Understanding Loeys-Dietz syndrome 4
Vascular signs include aneurysms and tears (dissections) in arteries of the brain, chest, and belly. Skeletal signs include chest wall differences, scoliosis, loose joints, and neck bone problems. Facial signs include wide-set eyes and early fusion of skull bones. Skin may be velvety and translucent and bruise easily. Features vary widely, even within a family.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Aortic root aneurysm
- Twisting aorta and arteries (tortuosity)
- Easy bruising
- Split uvula (bifid uvula)
- Chest wall differences
- Chronic pain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Loeys-Dietz Syndrome Foundation and The Marfan Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Loeys-Dietz Syndrome Foundation, The Marfan Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Loeys-Dietz Syndrome Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is inherited in an autosomal dominant way, which means one changed copy of a gene is enough. GARD does not name a gene for this listing.
Also known as: aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations; lds4; loeys-dietz syndrome caused by mutation in tgfb2; loeys-dietz syndrome type 4; tgfb2 loeys-dietz syndrome; tgfb2-related loeys-dietz syndrome
Patient organizations
- Loeys-Dietz Syndrome FoundationLoeys-Dietz syndrome 4 · United States
- The Marfan FoundationLoeys-Dietz syndrome 4 · United States
- The John Ritter Foundation for Aortic HealthLoeys-Dietz syndrome 4 · United States
You are more than your diagnosis
Perspectives from people navigating life with Loeys-Dietz syndrome 4.
Explore research for Loeys-Dietz syndrome 4
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