Stickler Syndrome

Gretchen Prats

10 november 2015

Period 3 hon. Anatomy

Schifferely

Stickler Syndrome

Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems (“Stickler Syndrome”). As stated by the American Association for Pediatric Ophthalmology and Strabismus, “Stickler Syndrome is usually caused by a mutation in the Type II procollagen (COL2A1) gene, although several other COL genes mutations have also been identified”. The diagnosis of Stickler syndrome is clinically based. “At present, no consensus minimal clinical diagnostic criteria exist” (Robin ,2014, Stickler Syndrome summary). Symptoms of this syndrome include short-sight, cataracts, cleft palate, possible hearing loss, and stiff joints or over-flexible joints (“Stickler Syndrome”). Since, Stickler syndrome affects many different areas of the body the most common treatment is surgery. “Treatment for cataract in infants from Stickler syndrome varies depending on the nature of each patient’s condition. Surgery is usually recommended very early in life” (“ Information on this Condition”).

This syndrome is very rare, “ 1 per 7,500 - 9,000 newborns suffer from Stickler syndrome” (“ Prevalence and Incidence of Stickler Syndrome”). Also, “approx 1 in 7,500 or 0.01% or 36,266 people in USA suffer from this disorder“ ( “ Prevalence and Incidence of Stickler Syndrome” ).

This syndrome is very life changing, it mainly affects infants based on their hereditary. Further, it is passed from parent to child. A child who has this syndrome will experience many surgeries in their lifetime to fix any defects. Any child affected by this syndrome is definitely a very strong person.

Works Cited

"American Association for Pediatric Ophthalmology and Strabismus." Stickler Syndrome — AAPOS. N.p., n.d. Web. 10 Nov. 2015.

"Information on the Condition." Information on the Condition. N.p., 28 Jan....