Also known as: LDS.
What is Loeys-Dietz syndrome?
Loeys-Dietz syndrome is a rare genetic disorder (from a gene mutation or an inherited abnormality from one parent) that negatively affects the formation of a child’s connective tissue (the fibers, ground substance and cells immersed in body water) that surrounds, supports and protects all tissues and organs of the body. Problems that result therefore occur in many parts of the body. Perhaps the most dangerous complications of Loeys-Dietz syndrome are dilatation/twisting of blood vessels called aneurysms, and splitting of the major artery that comes out of the heart (aortic dissection). It can also result in loose joints or skin and cause problems with skull and bones, and part of the bowel, among others.
What causes Loeys-Dietz syndrome?
In most children Loeys-Dietz syndrome is caused by genetic mutations, randomly occurring. In some children it has an autosomal dominant inheritance pattern where it passed down from one affected parent to the child.
What are the symptoms of Loeys-Dietz syndrome?
Weak and stretchy blood vessels can lead to symptoms such as an enlarged aorta, a bulge in a vessel wall (aneurysm) or vessel wall tears. Premature fusion of skull bones, a curved spine (scoliosis), clubfoot, flat foot and other skeletal problems (like very loose joints and skin) can also occur. People with Loeys-Dietz syndrome may bruise easily or have trouble with wound healing.
What are Loeys-Dietz syndrome care options?
While there is no definitive treatment or cure, medications and surgery under many subspecialists (cardiac surgery, radiology, genetics, orthopedics, ophthalmology, plastic surgery and others) may contribute to managing your child’s symptoms.
Reviewed by: Jack Wolfsdorf, MD, FAAP
This page was last updated on: January 10, 2022 03:45 PM