Sticklers Syndrome

By: Sherene Minhas

Stickler syndrome, Gene Mutation: COL11A1

Stickler syndrome, Gene Mutation: COL11A2

Stickler syndrome, Gene Mutation: COL2A1

Types of Stickler Syndrome A GENE MUTATION

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.

Occur

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)

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

FUTURE GENERATIONS

Stickler Syndrome Karyotype

Pictures

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.

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.

TREATMENT

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

Bibliography