What are the skeletal characteristics of a person with Marfan syndrome?

What are the skeletal characteristics of a person with 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.

How is Marfan syndrome identified?

Cardiomyopathy: With Marfan syndrome, the heart muscle may enlarge and weaken over time, causing cardiomyopathy, even if the heart valves are not leaking. The condition may progress to heart failure. Aortic root dilation: The aortic root is the area where the aorta meets the aortic valve.

What is pathogenesis of Marfan syndrome chromosome?

Marfan syndrome (MFS) is a spectrum of disorders caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission. [1, 2, 3, 4] The defect itself has been isolated to the FBN1 gene on chromosome 15, which codes for the connective tissue protein fibrillin.

What causes Marfan syndrome genetics?

Marfan syndrome is caused by defects or deletions (mutations) of the fibrillin-1 (FBN1) gene. Not everyone who has a mutation of this gene develops Marfan syndrome. Some changes do not alter the function of the gene or protein and therefore do not cause a medical problem.

How does Marfan syndrome affect connective tissue?

In people who have Marfan syndrome, connective tissue lacks strength because of its unusual chemical makeup. The syndrome affects the bones, eyes, skin, lungs, and nervous system, along with the heart and blood vessels.

What genes cause Marfan syndrome?

Marfan syndrome is caused by defects or deletions (mutations) of the fibrillin-1 (FBN1) gene. Not everyone who has a mutation of this gene develops Marfan syndrome.

How does Marfan syndrome affect the cardiovascular system?

Marfan syndrome can also cause mitral valve prolapse, a condition in which the flaps of your heart’s mitral valve become weak, floppy, or unable to close properly. This allows blood to flow backward and can cause symptoms like shortness of breath, heart palpitations, chest pain, and fatigue.

How does Marfan syndrome affect the human body?

Marfan syndrome is a genetic condition that affects connective tissue, which provides support for the body and organs. Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. Some complications of Marfan syndrome can be treated or prevented,…

Is it easy to diagnose Marfan syndrome?

It isn’t always easy to diagnose Marfan syndrome because it affects everyone a little differently. Some people with Marfan syndrome don’t show signs of it until later in childhood or in adulthood. How is Marfan syndrome treated?

How is the FBN1 gene related to Marfan syndrome?

Inheritance Pattern for Marfan Syndrome. This image shows how FBN1 genes are inherited. A person inherits two copies of the FBN1 gene, one from each parent. If one parent has Marfan syndrome, each child has a 50 percent chance of inheriting a mutated FBN1 gene and having Marfan syndrome.

Where do you get stretch marks with Marfan syndrome?

Stretch marks on the skin also are a common trait in people who have Marfan syndrome. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen. Not everyone who has these traits has Marfan syndrome. Some of these traits also are signs of other connective tissue disorders.