Stickler's syndrome

Stickler’s syndrome

Stickler syndrome is a disorder that can cause serious problems in vision and hearing. This syndrome is often diagnosed during childhood.

Children with Stickler syndrome often have distinctive facial features such as prominent eyes, small nose and chin recede. Has a small jaw that restricts the movement of the tongue can lead to difficulty breathing and feeding difficulties in infancy.

Stickler syndrome is caused by mutations in certain genes involved in the formation of a class of proteins called collagen. Collagen is one of the building blocks of various types of connective tissue, which supports the body’s internal structures.

The types of collagen are most affected by Stickler syndrome is a form cartilage and the vitreous, a jelly-like fluid that fills the center of the eye. This syndrome generally also decreased from parents who have a gene mutation.

The signs and symptoms of Stickler syndrome vary greatly from person to person, including:

1. Abnormal facial features
Children with Stickler syndrome often have a rather flat facial structure such as a small nose and narrow chin.

2. eye problems
Children with Stickler syndrome often have more eye problems commonly associated with older adults, such as nearsightedness, cataracts, glaucoma, and retinal disorders

3. difficulty hearing
Degree of hearing loss varies among people who have Stickler syndrome. Usually affects the ability to hear high frequency sounds and tend to deteriorate over time.

4. Bone and joint disorders
Abnormalities in bones and joints, including excessive flexibility, osteoarthritis, long fingers and scoliosis.

There is no cure for Stickler syndrome. Treatment can only be done to relieve the signs and symptoms of the disorder such as swelling and pain relieving drugs in the joints, eye lens correction, therapy and surgery.

 

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