Sticklers Syndrome By Sherene Minhas Types of Stickler

Sticklers Syndrome By: Sherene Minhas

Types of Stickler Syndrome A GENE MUTATION � Stickler syndrome, Gene Mutation: COL 11 A 1 � Stickler syndrome, Gene Mutation: COL 11 A 2 � Stickler syndrome, Gene Mutation: COL 2 A 1

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.

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

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 � - Vitreous degeneration : eye gel liquefies � - Strabismus: “Lazy Eye” � - Glaucoma: Higher then normal eye pressure

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

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 � - Genu valgum (knock kneed) � - Scoliosis (curvature of the spine) � - Legg-Perthes (degenerative hip disease) � - Joint pain: joints are bigger

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)

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

Stickler Syndrome Karyotype

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2 Ways to Diagnose � Genetic Testing: � � Doctors look for the following gene mutations to diagnose Stickler Syndrome: COL 11 A 1, COL 11 A 2, COL 2 A 1 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.

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.

� http: //www. cigna. com/healthinfo/nord 421. html � http: //www. slh. wisc. edu/genetics/stickler. pdf � http: //www. sticklers. org/sip 2/images/stories/Stickler. Brochure/sip%20 final %20 layperson%20 brochure. pdf � http: //www. geneclinics. org/profiles/stickler/details. html � http: //www. seattlechildrens. org/medical-conditions/chromosomal-geneticconditions/stickler-treatment/ � www. sticklers. org/sip 2/images/stories/. . . /dr%20 lindorsticklerslides. ppt