541 likes | 4.48k Views
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
E N D
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
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-syndrome • http://www.faces-cranio.org/Disord/Stickler.htm • http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/421/viewAbstract • http://children.webmd.com/stickler-syndrome-10892