2.  Stickler syndrome, Gene Mutation: COL11A1  Stickler syndrome, Gene Mutation: COL11A2  Stickler syndrome, Gene Mutation: COL2A1

3.  Stickler Syndrome 1- wide variety of symptoms to jaw, ear, cleft and joints.  Stickler Syndrome 2- midline clefting, sensor neural hearing loss; joint hyper mobility.  Stickler Syndrome 3- joints and hearing without using eyes.

4.  Stickler Syndrome can be found at birth but most doctors say it takes time to develop.  The hearing loss can happen in adolescence or adulthood  Knowledge is usually normal  Life expectancy is normal as well  Affects collagen through everybody's body  Happens with either males or females

5. How Stickler Syndrome Affects the Eyes: People with Stickler Syndrome have difficulties with their eye sight. These vision problems can be caused in many different ways. Eye Problems associated with Stickler Syndrome:  - Myopia : Myopia is also known as near sightedness  - Retinal detachment : This is when the retina becomes detached from the back of the eye which results in the loss of sight  - Cataracts : This occurs when a film forms over the eye that clouds the lens making eye sight worse.  - Astigmatism : This is when part of the eye is misshaped causing problems with sight  - Vitreous degeneration : eye gel liquefies  - Strabismus : “Lazy Eye”  - Glaucoma : Higher then normal eye pressure

6.  Ears/Hearing  - Inner ear hearing loss  - Otitis media (frequent ear infections) problems)

7.  - Osteoarthritis (degenerative joint disease)  - Hyper-mobile joints: joints are able to move a lot because they are loose  - Genu valgum (knock kneed)  - Scoliosis (curvature of the spine)  - Legg-Perthes (degenerative hip disease)  - Joint pain : joints are bigger

8.  - Flat cheeks and nasal bridge: This is more obvious in infants  - Small jaw  - Palate abnormalities: This can also affect the person's breathing  - Split uvula (the tissue that hangs down in the back of the throat is divided)  - Orthodontia issues  - Pierre-Robin sequence (small jaw, cleft palate, tongue  -placement abnormalities and breathing problems)

9.  If an adult has Stickler Syndrome and gives birth it’s a 50% chance of the child being affected, and a 50% chance of the child not being affected.  Stickler Syndrome is Autosomal dominant therefore this is why this happens. :Autosomal- this means that this genetic defect is not sex linked  A child can not get Stickler Syndrome unless one of the parents has the syndrome because the trait is dominate. There are no “carriers” for this trait.  The prevalence of Stickler Syndromes is 1 in 7500. Many doctors think the prevalence is higher because many people are misdiagnosed.  Research continues to examine the genetic defect trying to figure out how to fix the mutation.  Research is being done to allow doctors to diagnose Stickler Syndrome better. Stickler Syndrome is sometimes misdiagnoses or confused with other syndromes

12.  Genetic Testing:  Doctors look for the following gene mutations to diagnose Stickler Syndrome: COL11A1, COL11A2, COL2A1  Symptoms and Family History  Doctors examine the following: eyes, ears, bones/joints, and face/palate  There is a list of 12 criteria to be diagnosed with Stickler Syndrome, these symptoms have to do with the above body areas.  Doctors will also evaluate the family’s medical history.

13.  Mouth - The cleft pallet is repaired by a surgeon.  Speech and Language therapy: On going therapy is needed to help the person speak prpoperly after the cleft pallet is fixed.  Joints - Joints may need doctor’s care because they may be too stiff or too loose.  Infants with Stickler syndrome born with clubfoot deformity will be cared for by a bone doctor.  All children with Stickler syndrome should be checked for scoliosis on a regular basis.  Treatment for adult arthritis, which occurs later in life, may include assistance with pain relief, limited physical activities, and joints may need to be replaced.  Hearing - Children must be monitored closely for ear infections and hearing loss that may occur because of having too many ear infections.  Eyes - Both children and adults must have regular eye checkups with a specialist and eye problems will need to be treated.

14.  http://www.cigna.com/healthinfo/nord421.html http://www.cigna.com/healthinfo/nord421.html  http://www.slh.wisc.edu/genetics/stickler.pdf http://www.slh.wisc.edu/genetics/stickler.pdf  http://www.sticklers.org/sip2/images/stories/SticklerBrochure/sip%2 0final%20layperson%20brochure.pdf http://www.sticklers.org/sip2/images/stories/SticklerBrochure/sip%2 0final%20layperson%20brochure.pdf  http://www.geneclinics.org/profiles/stickler/details.html http://www.geneclinics.org/profiles/stickler/details.html  http://www.seattlechildrens.org/medical-conditions/chromosomal- genetic-conditions/stickler-treatment/ http://www.seattlechildrens.org/medical-conditions/chromosomal- genetic-conditions/stickler-treatment/  www. sticklers.org/sip2/images/stories/.../dr%20lindor sticklers lides.ppt www. sticklers.org/sip2/images/stories/.../dr%20lindor sticklers lides.ppt