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Stickler syndrome
And describe Dr. Cetklr 1965, five generations of a family and one that has twice heard and the problem in sight. Followed by a description of the cases have problems in the joints. And therefore, this disease leads to hearing loss and is followed by a detachment of the retina and at puberty and may suffer person patient problems and pain in the joints similar to rheumatism.
Deafness:
Many who have this syndrome suffer from hearing impairment caused by an imbalance in the channel, especially if Astekin and Jeddah defect in the palate. And there is a small percentage have weak auditory sensory nerve of the upper levels of frequency (high frequency sensorineural hearing loss).
Genetics:
This disease is caused by mutation in one gene Alkolgan Eolgan labeled 2 and 2 A and one (COL2AI), which is located on the long arm of chromosome 12. And it is congenital conditions, and this means that the probability of 50% to be repeated each time with the wife that if one parent has the same disease. If it is sound and the possibility of a new mutation redundancy less than 1%.
Symptoms
The most important symptoms of this disease is a flat face with a lower central part of the face and nose. And an incision in the palate and the separation of the retina and opacity in the lens of the eye and the problems in the joints.
Face: flat in the face. G decrease in the level of the nose with small nose and nostrils rise to the top .. Bulging of the eyes. Skin growths on the edge kind of home Epicanthal Folds). Hearing impairment. Congenital defects in the teeth. Small in the lower jaw. Incision in the palate. And disease may be diagnosed as a syndrome Bear Rob initially due to the small lower jaw and throat incision.
Eyes: failed to consider (8 to 18 Daober) and show up early and before the completion of the tenth year of age. Eat in the retinal layer (Chorioretinal Degeneration). Schizophrenia retina (Retinal Detachment) and opacity in the lens (Cataract).
Bones and joints: muscle relaxant. Flexibility in the joints. Khanv deviation and in the feet (Club feet). And the magnitude of the rise in the joints. Problem in the joints with age and after puberty, although it can appear at an early age. Suspicion of what pain the pain of rheumatism with eat in the cartilage lining the joints. With changes in the bones and vertebrae.
Other symptoms: Rewind in mitral valve (Mitral Valve Prolapse) in the heart in 45% of people with the disease
Do not usually affect the mind and not be accompanied by a delay in my mind to the very rare cases.
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موضوع: Stickler syndrome 
