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Marfan syndrome

Marfan syndrome

Contact: Genetic Alliance Australia
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More info: C/- The Garvan Institute of Medical Research Level 6, 384 Victoria St Darlinghurst NSW 2010
About: Marfan syndrome is an inherited condition that affects the connective tissue of the heart and blood vessels (cardiovascular system). The musculoskeletal system (ligaments and muscles) and ocular system (eyes) are also affected. Major symptoms also include unusual height, large hands and feet, and involvement of the lungs. Symptoms vary greatly among affected individuals.

Marfan syndrome is inherited in an autosomal dominant manner. Approximately 75% of people with Marfan syndrome
inherit the condition from a parent. In about one-quarter of individuals with the condition, it occurs because of a faulty gene
that arises spontaneously for unknown reasons. The single gene that causes this condition has been located on chromosome 15, and is called fibrillin-1 (FBN1).

Another more recently described form of Marfan syndrome has been identified, where affected individuals primarily have
heart and skeletal characteristics of Marfan syndrome, and do not have a faulty copy of the fibrillin-1 (FBN1) gene. This form of the condition is called Marfan syndrome type II. Faulty copies of the TGF-beta-receptor 2 (TGFBR2) gene have been associated with Marfan syndrome type II.
Useful links:

The Marfan Association QLD

Marfan Worldwide

The Marfan Foundation

Marfan Australia Support (Facebook Group)

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