Mild Case Of Marfan Syndrome //

The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family. Some people experience only mild effects, but others develop life-threatening complications. In most cases, the disease tends to worsen with age. Marfan syndrome features may include: Tall and slender build; Disproportionately long arms, legs and fingers. Marfan’s syndrome is a genetic or inherited disorder. The genetic defect occurs in a protein called fibrillin-1, which plays a large role in the formation of your connective tissue. The defect also causes overgrowth in bones, resulting in long limbs and significant height.

Marfan syndrome affects connective tissue, which is the “glue” between cells. It can affect many parts of the body, such as the skeleton, heart, blood vessels, eyes, skin, nervous system, and lungs. While mild scoliosis does not usually cause issues, severe cases of scoliosis can lead to breathing difficulties. It can occur in many conditions such as cerebral palsy, neurofibromatosis, muscle spasms, Marfan syndrome, and more. The treatment of scoliosis depends on the underlying degree of spine curvature, location of curvature, and cause. Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant condition occurring once in every 10,000 to 20,000 individuals. There is a wide variability in clinical symptoms in Marfan syndrome with the most notable occurring in eye, skeleton, connective tissue and cardiovascular systems.

Dec 11, 2013 · Marfan syndrome is a rare autosomal dominant disorder of the connective tissue, with skeletal, ligamentous, orooculofacial, pulmonary, abdominal, neurological and the most fatal, cardiovascular manifestations. It has no cure but early diagnosis, regular monitoring and preventive lifestyle regimen ensure a good prognosis. The most serious signs and symptoms associated with Marfan syndrome involve the cardiovascular system: undue fatigue, shortness of breath, heart palpitations, racing heartbeats, or chest pain radiating to the back, shoulder, or arm. Cold arms, hands, and feet can also be linked to MFS because of inadequate circulation. As an autosomal dominant condition, an affected parent with Marfan syndrome has a 50% chance of passing the condition to each child. In Marfan syndrome approximately 25% of cases are due to a spontaneous mutation, and neither parent has the condition.

Virtually all adults with Marfan's syndrome have an abnormal cardiovascular system. In early childhood, however, the features may be mild and easily missed. The most common cardiovascular abnormalities are dilatation of the aorta and mitral regurgitation table 2 ​ 2. Most children with Marfan's syndrome have aortic root dilatation. Marfan syndrome and related conditions affect the body’s connective tissue. Connective tissue holds the body together and plays a role in its growth and development. Because connective tissue is found throughout the body, Marfan syndrome and related disorders can affect many parts of the body, including the heart and blood vessels, bones and joints, eyes, skin, and lungs.

Mar 01, 2018 · Marfan Syndrome Signs & Symptoms. Marfan syndrome symptoms can range from very mild to severe and life-threatening. In most people with the disorder, symptoms worsen with age. Common Marfan syndrome symptoms include: 5, 6 Tall, thin build; Arms and legs that are disproportionately long; Unusually long fingers and toes; Sunken or protruding chest.

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