Call Us: +61 2 9295 8359
Follow Us:

Stickler Syndrome

Stickler Syndrome


Contact: Stickler Syndrome Australia Support Service (SSASS)
Tel: (07) 3886 0665
Email: ssdu@bigpond.com
Website Click here
More info: C/- 7 Noojee Court
Kallangur QLD 4503
About: Stickler syndrome refers to a group of conditions affecting the connective tissue of the eye, skeleton, inner ear, and/or the head and face. The symptoms are variable but commonly include unusual facial features including a small jaw and abnormalities of the palate, problems with vision and hearing, heart murmurs and problems with the connective tissue of the body and the joints. Some of these features are present at birth (congenital); others develop progressively throughout life.
Stickler syndrome is caused by faulty genes that provide the information for various types of collagen, an important protein in
connective tissue and the bones. The most common form of the condition, Stickler syndrome type I (STL1) results from a faulty copy of the COL2A1 gene located on the long ‘q’ arm of chromosome 12 at 12q13.11-q13.2. Stickler syndrome type 2 (STL2) is caused by a faulty copy of the COL11A1 gene located on the short ‘p’ arm of chromosome 1, at 1p21. A third form of Stickler syndrome (STL3) appears to be caused by a faulty copy of the COL11A2 gene, located on the short ‘p’ arm of chromosome 6, at 6p21.3. Stickler syndrome follows an autosomal dominant pattern of inheritance.
Useful links:

Facebook Support Group (Australia) - https://www.facebook.com/groups/176888712329569/

Stickler Syndrome Support Group (UK) http://www.stickler.org.uk/

Stickler Involved People (USA) http://www.sticklers.org/

Rare Connect Group - https://www.rareconnect.org/en/community/stickler-syndrome

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