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Stickler Syndrome

Stickler Syndrome is a serious health disorder. It is also known us as hereditary progressive arthro-ophthalmopathy. Joint, vision, and hearing problems are some common issues associated with stickler syndrome.

What is Stickler Syndrome?

Children who have Stickler syndrome are diagnosed in their early childhood . It is a genetic disorder, and there is no cure yet found to treat this disease. However, some treatment options can manage the complications in a better manner. Type I, Type II, Type III, Type IV, and Type V are the five types of stickler syndrome.

What are the Symptoms of Stickler Syndrome?

The symptoms of stickler syndrome vary from person to person. The standard symptoms of this disease are;

Eye problems. Apart from having a severe nearsightedness, children with Stickler syndrome often experience retinal detachments, glaucoma and cataracts.

Hearing difficulties are also common with people who have stickler syndrome. Many people experience problems hearing sounds at high frequency.

Affected children have over flexible joints and can get abnormal curvatures of the spine, such as scoliosis. Osteoarthritis can also occur.

Children with Stickler syndrome may often have distinctive facial features, such as a receding chin, prominent eyes and a small nose with scooped-out facial appearance. They are often born with a cleft palate.

When should you see a Doctor?

Routine follow-up visits including annual visits to eye specislist are critical to observe and monitor any progression of the symptoms. Prompt treatment can help prevent any life-altering complications. Hearing capacity should be checked every six months in children through age 5 and then annually thereafter.

Request an appointment at Apollo Hospitals

Call 1860-500-1066 to book an appointment

What are the Risk Factors and Complications of Stickler Syndrome?

If either parent has this syndrome , your child will likely be born with this disorder. Some major complications of Stickler Syndrome are:

  • Babies may encounter breathing difficulties if they have this disease. The small part of the lower jaw, and the tongue might roll back to the throat and cause breathing problems.
  • If the retinal detachments are not treated carefully, then the child can be blind in the future.
  • The chance of developing ear infections is higher in children with Stickler syndrome than in normal children. They have an abnormal facial structure, which contributes to this .
  • Hearing disabilities might lead to complete deafness over time if children are diagnosed with this disease.
  • Children can develop some serious problems in their heart valves .
  • An abnormal facial structure also contributes to abnormal structure of the jaw. The jaw in these children is so small that it does not leave enough room for adult teeth to grow. That is why children with Stickler syndrome are often seen wearing braces.

What are the Treatment options for Stickler Syndrome?

  • Speech therapy is the first treatment option.
  • Physical therapy can help your child to overcome joint flexibility issues. It can reduce their joint pain and aches.
  • Hearing aids are effective when your child is undergoing hearing disabilities.
  • Special education programs can be the most suitable form of therapy for children with Stickler syndrome. Since they have vision and hearing issues, special education programs can help them cope with their learning difficulties.
  • There are  a few  surgical  options to treat this disease. For example, Tracheostomy, Jaw surgery, Cleft palate repair, Placement of Ear tubes, Eye Surgeries, Joint Replacement, and Spinal bracing are some surgery options for these children.

Conclusion

Children mostly undergo vision and hearing loss issues when they have this problem. You must consult your doctor at the initial stage of the symptoms so that doctors can diagnose it early and proceed with the treatment. You can call Apollo Hospital at 1860-500-1066 for consultation .

Frequently Asked Questions (FAQs)

1: What kinds of tests do doctors perform to diagnose if you have stickler syndrome or not?

Ans: Eye tests, imaging tests, and hearing tests are the main diagnosis techniques that doctors use to determine if you have this disease.

2: What is the genetic reason behind stickler syndrome?

Ans: Stickler syndrome is caused by mutations in some genes involved in collagen formation. Collagen is one of the building blocks for many types of connective tissues. The type of collagen which is affected most commonly is that one used for production of joint cartilage and the jellylike material (vitreous) found within the eyes.

3: Can we detect stickler syndrome before the baby is born?

Ans: Yes, you can. Your doctor may perform molecular genetic testing on the fetus to determine the presence of the Stickler syndrome gene in your baby.

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