Stickler syndrome

Stickler syndrome eye

Overview of Stickler syndrome

Genetic diseases of dominant or recessive nature are becoming increasingly common in the recent years. Many of them are impacting the life expectancies of the patients. The statistics of Global Genes have shown that there are nearly 7000 rare diseases in the world and an estimated 300 million people live with those diseases. They have also established the fact that 6% of the babies are born with rare genetic diseases and about 30% of them die before the age of five. Stickler syndrome is a rare genetic disease that causes connective tissue disorders. It arises mainly from genetic mutations. 1 in 7500 people may suffer from the disease. Whether it alters the life expectancies or not is still a matter of ongoing research.

 

What is Stickler syndrome?

Stickler syndrome eyeStickler syndrome is a collective name for a group of genetic disorders that mainly affect the connective tissues. The part of the connective tissues that are most affected in this case is the collagen, which is an integral component of the connective tissues present in the bone, cartilage, and skin. Stickler syndrome is actually an autosomal dominant genetic condition.

“Autosomal” means it can affect males and females equally. “Dominant” indicates that the traits will be manifested in the child if the gene is passed on by an affected parent. When either parent has the syndrome, there is a 50% possibility of the gene to be passed on to the child. Sometimes the child may have the disease simply due to genetic mutations, even if none of the parents are affected or are the carriers. Stickler syndrome is progressive in nature. This means that the symptoms will worsen with age. The patients may experience problems in audio-visual functions and the joints.

 

What causes Stickler syndrome?

Stickler syndrome results from the mutation in the genes of the collagen during the period of fetal development. Research studies have shown that a defective metabolism associated with hyaluronic acid and the 2d type of collagen is the main cause of this syndrome. The mutations in this case mainly occur in the COL11A1, COL11A2, and the COL2A1 genes. These genes are responsible for the generation of type II and type XI collagen.

Defective collagen molecules or a paucity of collagen impacts the formation and development of bones and other connective tissues. All these factors collectively contribute to Stickler syndrome. Recent studies suggest that other genes may also be responsible for the disease, as many of the affected individuals did not evince abnormalities in any of the three aforementioned genes.

 

What are the characteristic features of Stickler syndrome?

The symptoms of Stickler syndrome are manifested in different parts of the body that contain connective tissues.

Abnormalities in the eyes / vision  

The prominent abnormalities in the eyes or in vision are given below-

  • Near-sightedness (Myopia)
  • Retinal detachment (separation of the retina from the back of the eye)
  • Cloudy appearance of the eye lens (cataracts)
  • Distortion of the spherical appearance of the lens or the cornea (Astigmatism)
  • Liquification of the gel within the eyes that eventually pulls away from the retina (Vitreous degeneration)
  • Involuntary and independent rolling of the eyes (Strabismus)
  • Increased intraocular pressure (glaucoma)

Problems in ears / auditory functions

The syndrome affects the cartilages present in the ear severely. Hence some of the primary auditory functions are disturbed.

  • Hearing loss (specially in the inner ear)
  • Infections in the middle ear (Otitis media)
  • Sticky discharge from the ear

Problems in bone and joints

Stickler syndrome spineMusculoskeletal problems are common in people with Stickler syndrome. The following problems are usually observed-

  • Pain and inflammation in the main joints
  • Erosion and degeneration of joints (osteoarthritis)
  • Abnormally increased mobility of joints (caused due to joint loosening)
  • Genu valgum (a medical condition where the knees meet at an angle when a person stands straight)
  • Abnormal curvature of the spine (scoliosis)
  • Legg-calve-Perthes disease (degenerative hip disease)

Orofacial symptoms

The facial muscles and tissues often undergo changes in this disease. The common signs are-

  • Flat cheeks and nasal bridge (very common in infants)
  • An abnormally small jaw
  • Obstructed airway
  • Structural and functional anomalies in the palate (bifurcation of the tissue that hangs at the back of the throat)
  • Orthodontia tissues
  • Pierre Robin syndrome (tongue abnormalities, cleft palate, breathing troubles and small jaw)

 

What are the different types of Stickler syndrome?

Stickler syndrome has four main categories. These are as follows-

  • Stickler syndrome COL2A1: It is seen in 75% of the studied cases. It is also called Type I Stickler syndrome.
  • Stickler syndrome COL11A1: It gives rise to type 2 syndrome.
  • Stickler syndrome COL11A2: It is also known as the Type III Stickler syndrome. The symptoms, in this case, are usually non-ocular, that is, problems in vision are usually not observed.
  • Stickler syndrome COL9A1 and COL9A2: These mutations are responsible for Type IV and Type V Stickler syndromes. These are the autosomal recessives variants.

 

Diagnosis and treatment

stickler sundrome cleftDiagnosis of Stickler syndrome is normally done in two ways-

  • Employing a diagnostic criterion based on a 12-point system that detects abnormalities in the eyes, bones/joints, ears and face/palate. A score of 5 or more is an indicator of Stickler syndrome.
  • Genetic testing in the prenatal or postnatal stage.

Stickler Syndrome is untreatable. Efforts can be made to address the symptoms and complications.

Therapy

  • Hearing Aids- as the child with Stickler syndrome has hearing problems, a registered audiologist or otologist can help in diagnosing and rectifying the issue. Hearing aids can help to improve the quality of life of the child.
  • Physical Therapy- Stickler syndrome causes bone and joint abnormalities leading to stiffness, joint pain, and mobility issues. With the help of equipment such as arch supports, braces and canes, the mobility issues of the child can be surmounted.
  • Speech Therapy- The help of a Speech-Language Pathologist (SLP) can be taken in case the child faces difficulties in learning pronunciation of words on account of the hearing problems. Additionally, defects in the oral cavity (such as cleft palate, abnormal positioning of the tongue, high arched palate etc.) cause speech defects which can be rectified with the help of an SLP.

Surgical intervention

  • Jaw surgery- A team of oral and maxillofacial surgeons along with the orthodontists can plan the lengthening of the lower jaw by implanting a device in the jawbone.
  • Cleft palate rectification- Babies born with a cleft palate (an opening in the roof of the mouth) can face issues such as difficulty in feeding, swallowing, chronic ear infections etc. This can be rectified by the surgical correction of the cleft and approximating the cleft margins.
  • Tracheostomy – The newborn babies might face difficulties in breathing owing to the incorrect position of the tongue and small lower jaw. Tracheostomy is a surgical procedure that involves slitting of the windpipe (trachea) and insertion of a tube which keeps the airway patent and helps in breathing.
  • Ear surgeries- In order to reduce the frequency and severity of the ear infections, ear tubes can be inserted in the eardrum.
  • Eye surgeries- Eye surgeries might be required to rectify cataract and inappropriate retinal detachments. A delay in the treatment might lead to blindness.
  • Bone and joint surgeries- joint replacement surgeries are required for early-onset arthritis especially in the hip and knee region. Spinal bracing or fusion surgeries might be required for children with abnormal curvature of the spine (kyphosis and scoliosis).

Prevention is mainly by the genetic counseling and genetic testing for couples having a family history in order to prevent this condition in the future generations.

 

 

Facts

  • This syndrome was first described by Gunnar B. Stickler in the year 1965.
  • There are 6 variants of stickler syndrome depending on the genetic cause and the clinical manifestations of the condition.
  • Stickler syndrome is observed in around 1 in every 7,500 to 9,000 newborns.

Facts

  • Type I is the most common variant of the condition accounting for around 80% to 90% of all the cases.
  • The risk of the syndrome being passed on to the children from the parents with Stickler syndrome is estimated to be around 50%.

Facts

  • Some other syndromes occurring due to genetic abnormalities are Down’s syndrome, Turner syndrome, Klinefelter syndrome, Cri du chat syndrome etc.

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Dos and Don'ts

Dos
  • Consult a registered medical practitioner in case you observe symptoms such as bone and joint abnormalities, hearing difficulties or eye problems.
  • Get medical help as soon as you observe abnormalities in the child. Delay in the treatment might lead to life-altering complications.
  • Special attention should be given to the diet of the child as feeding might be difficult due to abnormalities in the oral cavity.
Don'ts
  • Neglect hygiene (as children with Stickler syndrome are more prone to ear infections owing to the abnormal facial features) posture (as the child might develop abnormal curvatures of the spine due to bone abnormalities) etc.
  • Miss the follow-ups visits with the specialist doctors. This will help in preventing the progression of symptoms.

 

 

 

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Barium-enema
Barium Enema Barium enema is also known as colon x-ray. Here, the patient is asked to consume small amount of…
GGt test
GGT – Gamma-Glutamyl Transferase Test GGT or gammaglutamyl transferase test is a liver function test that is used to detect the extent of…
Tissue Transglutaminase Antibody (tTG) Test Transglutaminase is an enzyme present in our body and is involved in protein metabolism. A tTg test is…
thyroid_scan
Thyroid Scan Thyroid scan is a diagnostic procedure that aims to view the thyroid gland and detect any growths or…
lp-pla2
LP-PLA2 Test The LP-PLA2 test is a test which is carried out to assess the levels of Lipoprotein-Associated Phospholipase A2…
carrageenan seaweed
Carrageenan: How a simple seaweed extract could better your gut health & immunity Eat more ice cream to prevent cold and flu? –With carrageenan you get one simple seaweed extract that…
Salt dangers
Sodium chloride: The wonders and dangers of the simple table salt Sodium chloride is a salt containing sodium and chlorine ions at a 1:1 ratio. It is edible and…
The complete “what to eat” guide for gluten intolerance Does eating breads and pastas often makes you nauseous? Gluten intolerance is a common reason why you might…
The right way to prepare Alfalfa sprouts at home Alfalfa or lusan ghas is not just a nutritious animal fodder. This flavonoid-rich herb has some amazing health…
Find all the instant ways to get rid of blackheads Blackheads - Not only are they aesthetically unappealing but if left untreated these can cause bacterial overgrowth on…
Pescatarian Diet 101: What are the inherent health advantages of this diet? People opt to become a pescatarian in order to enrich their bodies with the essential health benefits that…
Is bronchitis contagious? And how to prevent this infection? It is acute bronchitis that is contagious which means you can contract it from another person or you…
11 unbelievable health benefits of thyme you didn’t know! Thyme is a herb that has been used in alternative medicine.It is a well known seasoning in the…
dhea adrenal
Androstenedione Test Androstenedione is produced by the adrenal gland, the test of the levels of Androstenedione helps in the evaluation…
sleep deprivation
Don’t let your sleep deficit grow into memory loss or heart attack Why is sleep important for us? How could sleep deprivation harm you? We bet you didn't know about…
improve digestion weight loss
Power up your gut: 8 proven steps on how to improve your digestion Did you know you have a colony of bacteria in your gut that help you in digesting food?…
Oxalates: How healthy greens can sometimes be bad news for your kidneys Oxalates are compounds present in a majority of healthy foods. However, at times an overconsumption of these could…
Inversion Therapy: The anti-gravity way of healing chronic back pain Inversion therapy involves suspending a person upside dow using different types of equipment. This works by taking the…
vdrl test syphilis
VDRL Test The VDRL test is a blood test that is used to diagnose sexually transmitted or venereal diseases, primarily…
complement c4 test
Anemia Profile Anemia Profile test (Basic) is a blood screening test that measures the levels of important components of the…
immunoglobulin M
Immunoglobulin M Test Immunoglobulin M is the largest and the first produced antibody which helps in the prevention or fighting of…
shoudler exercises
Keep your shoulders pain-free with these shoulder exercises Shoulder exercises are important in order to prevent chronic back and neck pain. Learn more about how you…
sugar toxic health
Sugar: 7 new shocking truths revealed about the sweet poison Can drinking soda bring you closer to death? Is sugar slowly poisoning you and your family? You would…
avocado benefits
Avocado: 15 reasons why this fruit should be a staple in your diet Did you know that the word avocado literally means "testicles". Don't get grossed out as this power-packed fruit…
edamame
Edamame: How healthy are these green baby beans? Edamame or "immature" soybeans are soft and easily digestable forms of soybeans that are great as an eveyday…
Peanut Butter: A spread of nutrients on your morning toast With tons of nutrients and powerful antioxidants swirling in every scoop, peanut butter is truly the one thing…
Beware of these common foods that cause high bodily inflammation! Maybe its the long list of inflammatory foods in your diet that is making you frequently sick. Find…
Coconut sugar: What is it and is it healthier than table sugar? In the long list of things that the wonderful coconut gives us, coconut sugar is another remarkable addition.…
Did you know drinking alkaline water could be the healthier choice for you? Ever wondered how safe is your drinking water in terms of pH? Recent studies have revealed that Alkaline…