What is Loeys-Dietz syndrome?
Loeys-Dietz syndrome is a genetic disorder of connective tissue. Connective tissue provides strength and flexibility to structures such as bones and ligaments, and is found throughout the body. Thus Loeys-Dietz syndrome can affect many different systems, including the heart, blood vessels, bones, joints, skin, and intestines.
Some of the features of Loeys-Dietz syndrome features are easy to see. Individuals with Loeys-Dietz syndrome often have skeletal problems including premature fusion of the skull bones (craniosynostosis), abnormal curvature of the spine (scoliosis), a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum), flat feet (pes planus), or elongated limbs with joint deformities (contractures) that restrict the movement of certain joints. The vertebrae, or bones in the spine, may be unstable and can lead to injuries to the spinal cord. Some affected individuals have joint inflammation, called osteoarthritis, which can affect the knees and the joints of the hands, wrists, and spine.
Additionally, individuals with Loeys-Dietz syndrome may bruise easily and develop abnormal scars after healing. Their skin may seem translucent or glassy, often with stretch marks and visible veins. Other characteristic features include widely spaced eyes (hypertelorism), eyes that do not point in the same direction (strabismus), a split in the soft flap of tissue that hangs from the back of the mouth (bifid uvula), and an opening in the roof of the mouth (cleft palate).
Others features, such as heart and blood vessel problems, may not be visible to the naked eye and need additional imaging. Individuals with Loeys-Dietz syndrome have an enlarged aorta, which is the main blood vessel that distributes blood from the heart to the rest of the body. When the aorta is enlarged, it can weaken and stretch and this can cause a bulge in the blood vessel wall. This bulge is called an aneurysm. Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall, called an aortic dissection. People with Loeys-Dietz syndrome can also have aneurysms or dissections in arteries throughout the body and have arteries with abnormal twists and turns. This is called arterial tortuosity and it most often occurs in the vessels of the neck.
It is important to note that these symptoms are not seen in all individuals with Loeys-Dietz syndrome and how severe the condition is can vary from person to person. Though a cure is not available, there are guidelines for management as well as various support groups available to provide resources as well as to help individuals cope with the day-to-day struggles of living with Loeys-Dietz. One support group is the Loeys-Dietz Foundation, which can be found at http://www.loeysdietz.org/en/.
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/loeys-dietz-syndrome-109933/overview/66631 • DATE UPDATED: 2020-01-09
Loeys-Dietz syndrome - Genetics Home Reference - NIH. (2017). Retrieved March 15, 2019, from https://ghr.nlm.nih.gov/condition/loeys-dietz-syndrome
Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 2008 Feb 28 [Updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1133/