What is Stickler Syndrome?
Stickler Syndrome is an inherited disease that affects the body’s connective tissues. It’s a sickness that affects multiple body systems. Connective tissue is the part that connects the body’s structures.
People who suffer from it also have vision problems, osteoarthritis, loose joints, Cleft palate, hearing loss, and heart valve problems. Although it is approximately one out of 7500, the condition is misdiagnosed in many cases.
There are various manifestations of Stickler syndrome, and they are often name for the specific area of the body where they first appear. The degree of loss of sight and hearing can vary based on the kind of.
- Children with Type I are at a chance of developing detachment from the retina, which can lead to losing hearing.
- Type II patients would have extreme hearing loss and eye problems.
- Children of Type III are less likely to have severe vision problems than those with Type I or II. It is classified as a non-ocular syndrome and does not impact vision. However, they could experience hearing loss in the beginning phases of life.
- Several Type IV and V instances identify with distinct facial characteristics.
Genetic mutations in various genes can cause the types of Stickler syndrome. COL2A1 gene mutations account for the majority (80%-90% of all cases) of Type I. A further 10- 20 percent of all cases fall under the category of Type II and stem from mutations that affect the COL11A1 gene.
Marshall syndrome, which represents a variety of Stickler syndrome, also caused by COL11A1 mutations to the gene. Forms III through VI, resulting from mutations of other genes that are related to it.
The Stickler syndrome genes make collagen components, which give shape and strength to the body: joint- and organ-supporting connective tissue. Any mutation in these genes can affect collagen molecules’ production, processing or assembly.
The deficiency of collagen molecules or the reduced levels of collagen can hinder the growth of connective tissue across many parts of the body, resulting in the diverse manifestations of Stickler syndrome.
Mutations in a single gene account for the vast majority of cases of Stickler syndrome. Researchers think other mutations are also responsible for this condition; however, those genes have yet to be identified.
Gene mutations that cause Stickler syndrome can trigger some or all of these characteristics:
Eye issues like nearsightedness, cataracts, glaucoma, degeneration of the retina, and jelly-like fluid. It also leads to retinal holes or detachment, where the retina pulls away from the surrounding tissue. Eye problems that are associated with Stickler syndrome can cause blindness.
Sensorineural Hearing Loss
It is due to changes within the inner ear or conductive due to middle ear issues. It could also cause chronic ear infections, fluid in the ear, or excessive ear bone mobility.
Skeletal anomalies such as the scoliosis of the spine that is curled or kyphosis, hypermobile joints, early-onset chest deformities, hip problems in childhood, known as Legg-Calve Perthes disease, as well as general joint disorders.
The incidence of mitral valve prolapse than the general population, as per research. Mitral valve prolapse results from an overgrowth of tissue on the heart valve, making it “floppy” and causing blood to flow in the wrong direction. For people with Stickler syndrome, the rate is 4 percent. For normal people, it’s about 2 percent.
Malocclusion occurs when the lower and upper teeth do not meet when you bite.
The appearance of the face is flat and often called the Pierre-Robin series. Cleft palates and bifid uvulas, in which the flap of tissue that lines the roof of the mouth divide in two. A high-arched palate could also characterize it as a tongue more in the back than normal or a shortened chin and a smaller lower jaw. Based on the severity, these issues can cause difficulties with eating, especially in the infant stage.
Other symptoms could include hypertonia and overly muscular tone, which causes long finger stiffness. It is quite similar to a condition known as Marshall syndrome. However, people suffering from Marshall syndrome generally have shorter stature and numerous characteristics of Stickler syndrome.
Because the symptoms and signs of Stickler syndrome are prone to fluctuation and differ, it’s difficult to assess the long-term prospects for those suffering from it. There is a greater risk of eye-related issues related to it, for instance, cataracts and retinal disconnect. Loss of sight is a possible outcome of several illnesses.
Patients frequently develop early-onset arthritis. People who suffer from it tend to be intelligent and can be a part of a community.
Stickler syndrome is possible if you show signs suggesting it, especially when one of your relatives diagnose with it. In addition, genetic tests can help determine it.
The medical profession establishes no current guidelines for diagnosis. However, medical tests, like X-rays, can be requested to determine the severity of diseases related to Stickler syndrome.
The organ system affected by Stickler Syndrome leads to various problems like deafness, blindness or even heart failure. It is a degenerative condition that requires constant monitoring. It is vital to track symptoms and treat them promptly to avoid serious complications.
Stickler syndrome remains untreatable. The symptoms and indicators of the ailment will determine the course of treatment.
The following tests recommend to assess the severity of the condition:
- Assessment of the palate by an expert in craniofacial surgery
- Ophthalmologic exam at the baseline
- Baseline audiogram
- An elicited and directed history reveals symptoms that suggest the mitral valve is prolapsed, like frequent tachycardia or chest pain. If there are symptoms, a referral to a cardiac surgeon is recommended.
- Consultation with a genetic counsellor or genetic
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3. Westhovens R, et al, Osteoarthritis at young age, a diagnostic challenge: A case of stickler syndrome
4. V Krasnik, et al. (2018). Marshal and stickler syndrome in one family
5. Blair P, et al, (2021). Stickler syndrome and associated collagenopathies