03/01/2026
March is Loeys-Dietz Awareness Month. Please take a moment to learn more about this rare genetic disorder that took Mathew way too soon.
Mathew C. Sheehan Memorial Scholarship Fund Mathew Sheehan
Loeys-Dietz syndrome has four main features:
Aneurysms - This is the widening of an artery. With LDS, it often affects your aorta, but you can have aneurysms in other arteries. You may not have symptoms of aneurysms, but imaging tests can detect them.
Arterial tortuosity- This is when arteries are twisted or spiraled. It most often affects arteries in your neck. Imaging tests can detect them.
Orbital hypertelorism - Widely spaced eyes are a distinctive craniofacial feature of LDS.
Bifid or broad uvula. This means the little piece of flesh that hangs in the back of your mouth (uvula) is split or bigger than usual.
Most people with LDS have these four features. But the syndrome can affect several other parts of your body, causing other symptoms.
What Is Loeys-Dietz Syndrome?
Loeys-Dietz syndrome (LDS) is a genetic condition that affects your connective tissue. Connective tissue typically provides strength and flexibility to many structures in your body.
Loeys-Dietz syndrome mainly affects your:
Heart and blood vessels
Bones and joints
Eyes
Skin
You’re born with LDS, but you might not notice signs and symptoms until childhood or adulthood. LDS affects each person differently. The health impacts range in severity.
Loeys-Dietz syndrome gets its name from two doctors who first identified the syndrome in 2005. Before this discovery, healthcare providers misdiagnosed it as Marfan syndrome. This is another connective tissue disease that affects your body in similar ways.
Physical features of Loeys-Dietz syndrome may include:
Cleft lip and palate
Clubfoot or flat feet
Craniosynostosis (early fusion of skull bones)
Long fingers and toes
Overly flexible joints (hypermobility)
Pectus excavatum (sunken chest) or pectus carinatum (protruding chest)
Scoliosis
Skin that bruises and scars easily
Skin that’s translucent (almost see-through) and velvety soft
Other features of LDS may include:
Congenital heart disease, like patent ductus arteriosus (PDA), atrial or ventricular septal defect (ASD/VSD) and bicuspid aortic valve (BAV)
Digestive system issues, like inflammatory bowel disease (IBD)
Dural ectasia (ballooning or widening of the dural sac, which surrounds your spinal cord)
Eye muscle disorders
Hernias
Food or environmental allergies
Loey-Dietz syndrome causes
An estimated 3 out of 4 people with Loeys-Dietz syndrome have no biological family history of the syndrome. For unknown reasons, a gene changes for the first time.
In about 1 out of 4 cases, you inherit LDS from a biological parent. LDS has an autosomal dominant pattern of inheritance. This means inheriting one copy of the faulty gene is enough to cause the syndrome. A parent with Loeys-Dietz syndrome has a 1 in 2 (50%) chance of passing the syndrome to each of their children.
