Stickler Syndrome, Type I
Stickler Syndrome, Type I Causes
Stickler syndrome is thought to be caused by several collagen genes mutations during fetal development.
Stickler Syndrome, Type I Definition
Stickler syndrome, type I also known as David-Stickler syndrome and Stickler-Wagner syndrome is a group of rare genetically inherited disorders, which affect connective tissue particularly collagen. Distinctive facial features, aye anomalies, loss of hearing, and joint problems are the main traits of Stickler syndrome.
Stickler Syndrome, Type I Symptoms and Signs
Some cases of Stickler syndrome, type I are asymptomatic while other cases have all the following features which may vary in severity: ? Flattened facial appearance featuring flat cheeks, flat nasal bridge, small upper and lower jaw, prominent upper lip groove and palate defects ? Pierre Robin syndrome featuring U-shaped or V-shaped cleft palate, excessively large tongue . Frequent ear infections and swallowing difficulties are common to children with cleft palate. ? Extreme near-sightedness due to the shape of the eyes ? Retinal detachment and glaucoma is usually observed in people with eye involvement ? Distinctive appearance of the vitreous (jelly-like matter within the eye) of the eye ? Arthritis ? End of the long bone abnormalities ? Spine curvature ? Knock knee ? Joint pain ? Hearing loss that may range from mild to severe, which can be progressive in some cases ? Learning difficulties
Stickler Syndrome, Type I Treatment
Treatment is usually carried out by craniofacial surgeons, specialists in eye, nose and throat, audiologists, rheumatologists and ophthalmologists.