Loeys-Dietz Syndrome
Medical Author: Melissa Conrad Stoppler, MD
Medical Editor: Jay W. Marks, MD
What is Loeys-Dietz syndrome?
Loeys-Dietz syndrome is a recently-described syndrome
characterized by aortic
aneurysms (weakened outpouchings of the aorta, the main artery in the body) in
children. In Loeys-Dietz syndrome, the aortic aneurysms are prone to rupture at
a smaller size than other aneurysms, putting children with Loeys-Dietz at great
risk for dying if the aneurysm is not identified and treated early.
The syndrome is named for pediatric geneticist Harry Dietz, director of the
William S. Smilow Center for
Marfan Syndrome Research at Johns Hopkins
University and his colleague, Bart
Loeys, who characterized the genetic and
physical markers of the syndrome together with Dr. Dietz.
What are the signs and symptoms of Loeys-Dietz syndrome?
Aortic aneurysms and abnormal organization of blood
vessels (widespread tortuosity of the arteries in locations other than the
aorta) are the hallmarks of Loeys-Dietz syndrome, but many affected children
have characteristic physical and facial features that may be the first
abnormality to be recognized. Physical characteristics of Loeys-Dietz syndrome
include early fusion of the skull bones
(known as craniosynostosis), widely spaced eyes, and cleft palate or split
uvula. In some
individuals with Loeys-Dietz syndrome, other physical abnormalities have been
noted, including defects at birth in the heart and brain, osteoporosis (weak
bones), and defects of the spine. It is important to
note that the severity of the visible physical characteristics varies among
affected individuals, but the danger of rupture of aneurysms remains the same no
matter how severe or mild the physical characteristics are.
In many cases pediatricians may be able to recognize the characteristic
facial features of Loeys-Dietz syndrome, and on this basis suggest further
evaluation for the presence of aortic aneurysms and vascular irregularities.
Other people with the syndrome are recognized when they seek medical assistance
for other reasons, such as heart murmurs or a family history of Marfan syndrome
or another condition that may cause aortic aneurysms.
Next: Is Loeys-Dietz syndrome inherited? »


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