Is Marfan syndrome due to a defect in fibrillin?
Marfan syndrome is caused by a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue.
How does Marfan syndrome affect fibrillin?
The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β.
What is an example of Marfan syndrome?
Marfan syndrome features may include: Tall and slender build. Disproportionately long arms, legs and fingers. A breastbone that protrudes outward or dips inward.
What is similar to Marfan syndrome?
Examples of conditions that appear similar but have specific management are Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome.
What is LOEY Dietz syndrome?
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.
What famous person has Marfan syndrome?
Abraham Lincoln is the most famous American who had Marfan syndrome. So did Julius Caesar and Tutankhamen. In more recent times, Olympic swimmer Michael Phelps, basketball prospect Isaiah Austin and, perhaps, al-Qaeda leader Osama bin Laden had Marfan syndrome.
What is the function of fibrillin?
Fibrillin is a glycoprotein, which is essential for the formation of elastic fibers found in connective tissue. Fibrillin is secreted into the extracellular matrix by fibroblasts and becomes incorporated into the insoluble microfibrils, which appear to provide a scaffold for deposition of elastin.
What is marfans?
Marfan syndrome is a disorder of the body’s connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues. Children usually inherit the disorder from one of their parents.
What is Goldberg syndrome?
Definition. Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis , craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability .
What is Beals Hecht syndrome?
Beals-Hecht syndrome, also known as congenital contractural arachnodactyly, is caused by a defect in fibrillin as in Marfan syndrome. This syndrome is characterized by a multitude of clinical findings including arachnodactyly, narrow body habitus, scoliosis, congenital contractures, and external ear deformities.