Stickler Syndrome

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.

Diagnosis

· 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.

Management

The best way to deal with this disorder concludes with many different sorts of surgery’s to the face, throat and eyes.

Prognosis

This can cause hearing loss with enough failure of tissue, as well as facial abnormalities, joint problems and ocular disorder.

Symptoms

General feeling of being unwell, cold or numb phalanges, swolllen fingers and muscle and joint pain.

Pathogenesis

As with most Autoimmune diseases, the immune system — responsible for fighting off disease — mistakes normal, healthy cells for intruders. In connective tissue diseases, your immune system mistakenly attacks the fibers that provide the framework and support for your body.

Diagnosis

A physical exam may reveal signs such as swollen hands and painful, swollen joints. A blood tests determine whether the patient has a certain antibody in his blood that indicates mixed connective tissue disease

Management

There is no current cure for this autoimmune disease, yet, the types of drugs the patient may take are very efficient most of the time.

Corticosteroids

Drugs such as prednisone help control your immune function, keeping it from attacking healthy cells, and suppress inflammation.

Prognosis

The overall issues that may occur with this sort of include, lung problem, heart disease and kidney failure.

Epidemiology

While mixed connective tissue disease can happen to anyone, including children, it appears to be most common in women under the age of 30.