Stickler Syndrome

Corey Thompson

Stickler Syndrome• Stickler Syndrome is a genetic disorder that affects the

collagen which connects tissues, bones, and cartridge• It is a dominant trait, so it is passed down through

generations• It affects equally women and men• It is also a progressive disorder, becoming more severe with

age• It is characterized by severe enflamed joint, severe

nearsightedness, an enflamed cleft palate, and nonsymmetrical eyes and misshaped, also includes higher pressure in the eyes

Definition of Syndrome

• 1) A group of symptoms that consistently occur together or a condition characterized by a set of associated symptoms.

• 2) A characteristic combination of opinions, emotions, or behavior: "the “Not In My Back Yard” syndrome.

Characteristics of Stickler

• Misshaped and nonsymmetrical eyes• Enflamed cleft palate• Enflamed joints and severe joint pain• Small tongue and falls back towards the throat• Hearing difficulty and severe nearsightedness• Small jaw and nose and flat nasal package

Complications of Stickler

• Blindness• Ear infections• Deafness• Heart problems• Dental problems• Difficulty breathing• Difficulty feeding

What Causes It?

• It is caused by a mutation on the Type II pro-collagen (COL2A1) gene

• Mutations can occur on other genes and cause Stickler Syndrome however its most common to occur on the previous gene

How the Syndrome Passed Down?

• It is passed down through genes• It is a dominant trait

Mutation on Pro-Collagen Gene

• The mutation on the gene causes issues with the connective tissues in the whole body and cause the unique features of Stickler

Not the actual gene

COL2A1

History of Stickler

• Gunnar B. Stickler discovered the disease, a German-American scientist

• He worked at the Mayo Clinic which now provides a large online database for genetic and health related information

• Discovered the disease when studying a 12 year old boy with enflamed palate, severe swollen joints, and nearsightedness

• The boys family history had blindness and other cases of the same symptoms

Diagnosis

• Can be done based on medical history and physical exam

• Eye exams are performed to check for extreme nearsightedness, pressure and cloudiness in the eye

• Audiograms are performed to test for different hearing frequencies and noises

• Genetic testing can check to see if the mutation exists, but usually not performed except prenatal

Treatment

• Treatment for Stickler Syndrome is pretty minimal

• Pain relief pills are given for the extreme joint pain

• Follow ups with Eye and Hearing Specialists are crucial for the treatment of the disorder

• Cleft Palate usually surgically fixed within 9 to 12 months to repair proper speech

Bibliography

• http://www.seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/stickler-treatment/

• http://www.sticklers.org/sip2/images/stories/SticklerBrochure/sip%20final%20layperson%20brochure.pdf

• http://www.mayoclinic.com/health/stickler-syndrome/DS00831/DSECTION=tests-and-diagnosis

• http://www.aapos.org/terms/conditions/99• http://ghr.nlm.nih.gov/condition/stickler-synd

rome• http://www.faces-cranio.org/Disord/Stickler.h

tm• http://www.rarediseases.org/rare-disease-inf

ormation/rare-diseases/byID/421/viewAbstract

• http://children.webmd.com/stickler-syndrome-10892