Stickler Syndrome
Stickler Syndrome
| Contact: | Connective Tissue Disorders Network Australia (CTDNA) |
| Email: | hello@ctdna.org.au |
| Website | Click here |
| More info: |
Thousands of Australians live with genetic, heritable and / or rare connective tissue disorders; also referred to as; heritable connective tissue disorders (HCTD). Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome and Stickler syndrome are just a few of the many dozens of identified HCTD. Connective Tissue Disorders Network Australia (CTDNA) is the collaborative effort of people both living with, and / or caring for those with HCTD. Individuals are often both; a patient, and a carer. CTDNA seeks to establish a national network of lived experience advocates, healthcare professionals and researchers with an interest in HCTD. A network of like minded individuals coming together to better the care and management of Australians impacted by HCTD. |
| 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: |
Additionally, below is a link to an independently run Facebook support group in Australia. CTDNA is not directly affiliated with this group, it is independently managed and operates under their own governance. The following groups are also available globally:Â Stickler Syndrome Support Group (UK) http://www.stickler.org.uk/ Stickler Involved People (USA) http://www.sticklers.org/ |
Latest Tweets
Tweets by @GeneticAll_AUOur 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
