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) -Â 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 -Â https://www.rareconnect.org/en/community/stickler-syndrome |
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