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Sticklers Syndrome

Sticklers Syndrome. By: Sherene Minhas. Types of Stickler Syndrome A Gene Mutation. Stickler syndrome, Gene Mutation: COL11A1 Stickler syndrome, Gene Mutation: COL11A2 Stickler syndrome, Gene Mutation: COL2A1. Occur.

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Sticklers Syndrome

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  1. Sticklers Syndrome By: ShereneMinhas

  2. Types of Stickler Syndrome A Gene Mutation • Stickler syndrome, Gene Mutation: COL11A1 • Stickler syndrome, Gene Mutation: COL11A2 • Stickler syndrome, Gene Mutation: COL2A1

  3. Occur • 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. Brief History • 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. Phenotypic effects to Human Body: Eyes 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 • - Vitreousdegeneration: eye gel liquefies • - Strabismus: “Lazy Eye” • - Glaucoma: Higher then normal eye pressure

  6. Phenotypic effects to Human Body: Eyes/Hearing • Ears/Hearing • - Inner ear hearing loss • - Otitis media (frequent ear infections) problems)

  7. Phenotypic effects to Human Body: Bones/Joints • - Osteoarthritis (degenerative joint disease) • - Hyper-mobile joints: joints are able to move a lot because they are loose • - Genuvalgum(knock kneed) • - Scoliosis (curvature of the spine) • - Legg-Perthes (degenerative hip disease) • - Joint pain: joints are bigger

  8. Phenotypic effects to Human Body: Oral/Facial • - 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. Future Generations • 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

  10. Stickler Syndrome Karyotype

  11. Pictures

  12. 2 Ways to Diagnose • 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. Treatment • 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. Bibliography • http://www.cigna.com/healthinfo/nord421.html • http://www.slh.wisc.edu/genetics/stickler.pdf • http://www.sticklers.org/sip2/images/stories/SticklerBrochure/sip%20final%20layperson%20brochure.pdf • http://www.geneclinics.org/profiles/stickler/details.html • http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/stickler-treatment/ • www.sticklers.org/sip2/images/stories/.../dr%20lindorsticklerslides.ppt

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