Overview
Loeys-Dietz syndrome (LDS) is a rare inherited connective tissue disorder that mainly affects the heart, blood vessels, skeleton, and skin. Connective tissue is the material that holds the body's structures together, and when it doesn't work properly, many parts of the body can be affected. The condition is named after the two doctors who first described it, Bart Loeys and Hal Dietz. It is sometimes grouped with other connective tissue disorders like Marfan syndrome because they share some features, but LDS has its own distinct characteristics. The most serious concern in LDS is the risk of problems with the aorta — the large blood vessel that carries blood from the heart to the rest of the body. The aorta can become stretched or enlarged (called an aneurysm) and may tear suddenly, which is a life-threatening emergency. Other blood vessels throughout the body can also be affected. People with LDS may also have a split or wide-spaced uvula (the small tissue hanging at the back of the throat), widely spaced eyes, a cleft palate, twisted or curved arteries, joint looseness, scoliosis, and skin that bruises or stretches easily. Treatment focuses on protecting the heart and blood vessels, usually with medications such as beta-blockers or losartan to reduce stress on the aorta, and surgery when blood vessels become dangerously enlarged. Regular monitoring with imaging scans is essential. With careful management and close follow-up, many people with LDS live full lives, though lifelong medical care is needed.
Key symptoms:
Enlarged or stretched aorta (aortic aneurysm)Twisted or kinked arteries throughout the bodyWidely spaced eyes (hypertelorism)Split or broad uvula at the back of the throatCleft palateVery flexible or loose jointsCurved spine (scoliosis)Chest wall deformity (sunken or protruding chest)Skin that bruises easily or has a translucent appearanceTall, slender body with long fingersClub foot at birthChronic joint or bone painEasy skin scarringFlat feetCervical spine instability (neck bones that are unstable)
Clinical phenotype terms (37)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Loeys-Dietz syndrome.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Loeys-Dietz syndrome.
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Questions for your doctor
Bring these to your next appointment
- Q1.Which subtype of Loeys-Dietz syndrome do I have, and what does that mean for my specific risks?,How often do I need imaging of my aorta and other blood vessels, and which type of scan is best for me?,At what aortic size would you recommend surgery, and what type of surgery would be done?,Should my family members be tested for LDS, and if so, which relatives and which genes?,What physical activities are safe for me, and which ones should I avoid?,Are there any medications I should avoid — such as certain decongestants or stimulants — that could raise my blood pressure?,Is there a specialized LDS or connective tissue disorder clinic I should be seen at for the best care?
Common questions about Loeys-Dietz syndrome
What is Loeys-Dietz syndrome?
Loeys-Dietz syndrome (LDS) is a rare inherited connective tissue disorder that mainly affects the heart, blood vessels, skeleton, and skin. Connective tissue is the material that holds the body's structures together, and when it doesn't work properly, many parts of the body can be affected. The condition is named after the two doctors who first described it, Bart Loeys and Hal Dietz. It is sometimes grouped with other connective tissue disorders like Marfan syndrome because they share some features, but LDS has its own distinct characteristics. The most serious concern in LDS is the risk of p
How is Loeys-Dietz syndrome inherited?
Loeys-Dietz syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Loeys-Dietz syndrome?
17 specialists and care centers treating Loeys-Dietz syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.