Medical Characteristics

LDS manifests itself in a number of ways, therefore no two persons with LDS will have identical medical characteristics. It is recommended that you consult with your physician or a local geneticist if you have questions about individual health concerns.

On September 29, 2011, Dr. Hal Dietz and Dr. Paul Sponseller (head of orthopedics at The Johns Hopkins University) made a 90-minute presentation to the Chiefs of Staff for the Shriners Network to present about LDS and raise awareness.

The first 60 minutes was a presentation by the doctors, followed by a 30-minute question and answer session. Dr. Peter Armstrong, Chief Medical Officer of the Shriners Network of Hospitals allowed the LDSF to use his monthly management meeting to communicate the importance of LDS to his medical staff. The Shriner's Network sees thousands of orthopedic
cases per year and, as a result of the webinar, can now better identify patients with LDS. 

To view the presentation, CLICK HERE.

Four main characteristics are commonly seen in individuals with Loeys-Dietz syndrome. These feature are not usually seen all together in other connective tissue disorders as major characteristics. These symptoms include:

• Arterial tortuosity (twisting or spiraled arteries), most often occurring in the vessels of the neck
• Hypertelorism (widely spaced eyes)


• Bifid (split) or broad uvula (the little piece of flesh that hangs down in the back of the mouth)
• Aneurysms (widening or dilation of arteries), which can be observed by imaging techniques. This is most often observed in the aortic root (base of the artery leading from the heart), but can be seen in other arteries throughout the body

For a more complete list of symptoms that have been recorded in patients who have been diagnosed with LDS, CLICK HERE.

There are several clinical evaluations that are currently pursued together to determine a diagnosis of Loeys-Dietz syndrome.

For more information on being clinically diagnosed with LDS, CLICK HERE.

Although Loeys-Dietz syndrome shows overlap with other disorders such as Marfan Syndrome (MFS), Ehler-Danlos Syndrome (EDS), Shprintzen-Goldberg syndrome (SGS) and others, a variety of differential features set LDS apart from other disorders.

For more information on features of LDS and other related conditions, CLICK HERE.

LDS manifests itself in a number of ways, therefore no two persons with LDS will have identical medical characteristics. It is recommended that you consult with your physician or a local geneticist if you have questions about individual health concerns.

For more information on general treatment options for LDS, CLICK HERE.

Several major complications have been noted in early patient studies. For more information on complications of LDS, CLICK HERE.

Information about the natural history and management of individuals with LDS continues to evolve. For more information on the advances we're making with LDS, CLICK HERE.

Loeys-Dietz syndrome is a genetic disorder that is caused by a mutation (gene change) in either the TGFBR1 or TGFBR2 genes (transforming growth factor beta receptor 1 or 2). For more information on the genetics behind LDS, CLICK HERE.