A heritable disorder
what do you feel?
Since Stickler syndrome is a heritable disorder, most symptoms or signs can be seen relatively quickly, the lack of generation of facial bone cause the patients face to look flat.
U or V shaped pallets in the mouth cause the patient to have problems with swallowing substance. As their tongues are too large.
What's the Pathogenesis?
Mutations in the COL11A1, COL11A2 and COL2A1 genes cause Stickler syndrome.
This is a direct effect to collagen in the body, which in turn affects all types of connective tissue.
· Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine.
· Eye exams. These exams can help your doctor detect problems with the jelly-like material (vitreous) that fills the eye or the lining of the eye (retina), which is crucial for sight. Eye exams also can check for cataracts and glaucoma.Hearing tests. These tests measure the ability to detect different pitches and volumes.
The best way to deal with this disorder concludes with many different sorts of surgery’s to the face, throat and eyes.
This can cause hearing loss with enough failure of tissue, as well as facial abnormalities, joint problems and ocular disorder.
Drugs such as prednisone help control your immune function, keeping it from attacking healthy cells, and suppress inflammation.