What is Stickler Syndrome
What is Stickler Syndrome?
Stickler syndrome is a genetic disorder affecting collagen throughout the body. Collagen is a primary part of connective tissue like bone, skin and cartilage. Stickler syndrome is also a progressive disorder, so the symptoms are likely to become more severe with age. It is a disorder primarily characterized by problems with vision, joints and hearing. The disorder does not affect intelligence but can present issues making it difficult for a student to learn in a typical classroom without accommodations for his or her unique needs. Students with Stickler syndrome may have a few or many of the following complications due to the disorder.
Common Symptoms
Eyes
• Myopia (near sightedness)
• Retinal detachment (retina separates from the back of the eye causing partial or total loss of sight)
• Cataracts (clouding of the eye lens)
• Astigmatism (cornea or lens not spherical)
• Vitreous degeneration (gel within eye liquefies and pulls away from the retina)
• Strabismus (eyes move independently of each other)
• Glaucoma (elevated eye pressure)
Ears/Hearing
• Inner ear hearing loss - Otitis media (frequent ear infections)
Bones/Joints
• Joint pain/enlarged joints
• Osteoarthritis (degenerative joint disease)
• Hyper-mobile joints (loose jointed)
• Genu valgum (knock kneed)
• Scoliosis (curvature of the spine)
• Legg-Perthes (degenerative hip disease)
Oral/Facial
• Flat cheeks and nasal bridge (most noticeable in infants)
• Small jaw
• Palate abnormalities/obstructed airway
• 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)
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