Call Us: +61 2 9295 8359
Follow Us:

Marfan syndrome

Marfan syndrome


Contact: Genetic Alliance Australia
Tel: 02 9295 8359
Email: info@geneticalliance.org.au
Website Click here
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:

Marfan Association Victoria
http://www.marfanvic.org.au/

The Marfan Association QLD
http://www.marfanqld.org.au/

Marfan Worldwide
http://www.marfanworld.org/

The Marfan Foundation
http://www.marfan.org/

Marfan Australia Support (Facebook Group)
https://www.facebook.com/groups/888424367845015/
https://www.facebook.com/groups/1513449522214589/

Latest Tweets

Our mission statement

To facilitate support for those affected directly or indirectly by genetic conditions throughout Australasia.

make a donation
Help Support Genetic Alliance Australia

Click on Bert, the Genetic Alliance Frog - to make a donation. All donations over $2 are tax deductible.
ABN  83 594 113 193  |  ACN 168918625  |   Registered Charity CFN  15481

We are members of
Supported by
Contact Us

C/- Garvan Institute of Medical Research
Level 6, 384 Victoria Street
Darlinghurst ,  NSW   2010

Subscribe

We promise not to send you spam.

© 2016 Genetic Alliance Australia. All right reserved.   |   Disclaimer & Privacy Policy
+61 2 9295 8359