Stickler Syndrome, Type I

Below you will find more information about Stickler Syndrome, Type I from Medigest. If you believe that you are suffering from any of the symptoms of Stickler Syndrome, Type I it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Stickler Syndrome, Type I and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Stickler Syndrome, Type I comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

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.

Treatment

Treatment is usually carried out by craniofacial surgeons, specialists in eye, nose and throat, audiologists, rheumatologists and ophthalmologists.

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: ò Flattened facial appearance featuring flat cheeks, flat nasal bridge, small upper and lower jaw, prominent upper lip groove and palate defects ò 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. ò Extreme near-sightedness due to the shape of the eyes ò Retinal detachment and glaucoma is usually observed in people with eye involvement ò Distinctive appearance of the vitreous (jelly-like matter within the eye) of the eye ò Arthritis ò End of the long bone abnormalities ò Spine curvature ò Knock knee ò Joint pain ò Hearing loss that may range from mild to severe, which can be progressive in some cases ò Learning difficulties

Causes

Stickler syndrome is thought to be caused by several collagen genes mutations during fetal development.

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