What are the symptoms of Loeys-Dietz syndrome?
What are the symptoms of Loeys-Dietz syndrome?
Individuals with Loeys-Dietz syndrome often have skeletal problems including premature fusion of the skull bones (craniosynostosis ), an abnormal side-to-side curvature of the spine (scoliosis ), either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum ), an inward- and upward-turning foot ( …
How do you test for LOEY Dietz?
Patients might be diagnosed with Loeys-Dietz after an aortic aneurysm (a weakened or bulging area on the wall of the aorta) is found on a CT scan or echocardiogram, or after experiencing a life-threatening aortic dissection (a tear in the inner layer of the aorta) or a dissection in other arteries.
How is LDS diagnosed?
Diagnosis of LDS is usually based on finding an enlarged aorta and getting the results of genetic testing. The physician may perform a physical examination to determine if the patient has other symptoms associated with LDS, and also examine the family medical history of the patient to see if there is LDS in the family.
How many people in the world have loeys-Dietz?
EDS affects 1 in 5,000 people worldwide and 1 in 2,500 – 1 in 5,00 births. In most cases, a person will inherit the condition from their parents. In rare cases a person may develop EDS due to spontaneous mutations in genes involved in collagen function.
How do you test for LOEY’s Dietz?
A medical geneticist is usually most knowledgeable about recognizing and diagnosing Loeys-Dietz syndrome. To make the diagnosis, the medical geneticist reviews the patient’s family health history, conducts a physical exam, and performs imaging tests which can include: Echocardiogram.
Is loeys-Dietz rare?
Overview. Loeys-Dietz syndrome (LDS) is a disorder that affects the connective tissues of the body and increases the patient’s risk of aneurysms in arteries such as the aorta. This condition is rare and was only recently identified as a condition in 2005.
