Living with Loeys-Dietz syndrome 2
A form of Loeys-Dietz syndrome caused by a change in the TGFBR2 gene, affecting blood vessels, bones, and more.
Understanding Loeys-Dietz syndrome 2
The gene is found on chromosome 3p24. The condition can affect a person's physical features and health. It can appear at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Aortic root aneurysm
- Tear in the aorta wall (ascending aortic dissection)
- Twisting arteries (arterial tortuosity)
- Split uvula (bifid uvula)
- Cleft palate
- Clubfoot
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
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in TGFBR2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Loeys-Dietz Syndrome Foundation and The Marfan Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- 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 caused by a change in the TGFBR2 gene. A person can have it after inheriting one changed copy of the gene (autosomal dominant).
Also known as: aortic aneurysm, familial thoracic 3; lds2; loeys-dietz syndrome caused by mutation in tgfbr2; loeys-dietz syndrome type 2; loeys-dietz syndrome type ii; marfan like connective tissue disorder
Patient organizations
- Loeys-Dietz Syndrome FoundationLoeys-Dietz syndrome 2 · United States
- The Marfan FoundationLoeys-Dietz syndrome 2 · United States
- The John Ritter Foundation for Aortic HealthLoeys-Dietz syndrome 2 · United States
You are more than your diagnosis
Perspectives from people navigating life with Loeys-Dietz syndrome 2.
Explore research for Loeys-Dietz syndrome 2
Explore actively recruiting Loeys-Dietz syndrome 2 studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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