Loeys Dietz syndrome

What is the prevalence of Loeys Dietz syndrome?

How many people does Loeys Dietz syndrome affect? Does it have the same prevalence in men and women? And in the different countries?

Loeys-Dietz syndrome is a rare genetic disorder that affects the connective tissues of the body. It was first identified in 2005 and is caused by mutations in certain genes involved in the transforming growth factor-beta (TGF-β) signaling pathway. This syndrome is characterized by a wide range of symptoms, including craniofacial abnormalities, cardiovascular defects, skeletal abnormalities, and an increased risk of aneurysms and dissections.

Due to its recent discovery and the complexity of its diagnosis, determining the exact prevalence of Loeys-Dietz syndrome is challenging. However, studies suggest that it is a relatively rare condition. The estimated prevalence is approximately 1 in 10,000 to 20,000 individuals. It is important to note that this prevalence may vary across different populations and regions.

Early diagnosis and management of Loeys-Dietz syndrome are crucial to prevent or minimize complications. Genetic testing and evaluation by a multidisciplinary team of specialists are typically required for an accurate diagnosis. As this syndrome can have significant implications for the affected individuals and their families, ongoing research and awareness efforts are essential to improve understanding, diagnosis, and treatment options.

by Diseasemaps

The prevalence is unknown. The disorder is classified as a rare genetic disorder.

5/12/19 by Derek 4050

Loeys-Dietz syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, and blood vessels. There are five types of Loeys-Dietz syndrome, labelled types I through V, which are distinguished by their genetic cause. Regardless of the type, signs and symptoms of Loeys-Dietz syndrome can become apparent anytime from childhood through adulthood, and the severity is variable. Loeys-Dietz syndrome is characterized by enlargement of the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. The aorta can weaken and stretch, causing a bulge in the blood vessel wall (an aneurysm). Stretching of the aorta may also lead to a sudden tearing of the layers in the aorta wall (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 (arterial tortuosity). 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 (clubfoot), flat feet (pes planus), or elongated limbs with joint deformities called contractures that restrict the movement of certain joints. A membrane called the dura, which surrounds the brain and spinal cord, can be abnormally enlarged (dural ectasia). In individuals with Loeys-Dietz syndrome, dural ectasia typically does not cause health problems. Malformation or instability of the spinal bones (vertebrae) in the neck is a common feature of Loeys-Dietz syndrome and can lead to injuries to the spinal cord. Some affected individuals have joint inflammation (osteoarthritis) that commonly affects the knees and the joints of the hands, wrists, and spine. People with Loeys-Dietz syndrome may bruise easily and develop abnormal scars after wound healing. The skin is frequently described as translucent, often with stretch marks (striae) and visible underlying veins. Some individuals with Loeys-Dietz syndrome develop an abnormal accumulation of air in the chest cavity that can result in the collapse of a lung (spontaneous pneumothorax) or a protrusion of organs through gaps in muscles (hernias). 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). Individuals with Loeys-Dietz syndrome frequently develop immune system-related problems such as food allergies, asthma, or inflammatory disorders such as eczema or inflammatory bowel disease.

5/14/19 by Glenn 2500

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