Stickler syndrome

Stickler syndrome eye

Last Updated December 20th, 2021

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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Meal replacement or protein drink? Learn all about Shakeology and its claims Shakeology from Beachbody claims to be the most suitable shake that can aid in weight loss, regulate blood…
Barium-enema
Barium Enema Barium enema is also known as colon x-ray. Here, the patient is asked to consume small amount of…
malarial antigen test
Malaria Antigen Test A malaria antigen test is a rapid diagnostic test (RDT) that can detect malarial antigens (proteins) in your…
complement c4 test
Anemia Profile Anemia Profile test (Basic) is a blood screening test that measures the levels of important components of the…
shiitake mushrooms healthy
What are Shiitake Mushrooms and why should you eat them? Shiitake Mushrooms are well known for their smoky and robust taste. However, did you know they are replete…
Optavia diet
The features of an Optavia diet The Optavia diet endorses pre-packaged meals and snacks called "fuelings" that are tasty, low in calorie, and incorporates…
alcohol toxic
7 startling facts that will make you quit alcohol today Does drinking really make you friendly and happy? How many calories does a can of cold beer add…
Jackfruit: Slice your way into higher immunity, better digestion, & more… Native to the South East Asia, the jackfruit is a fruit brimming with thousands of health benefits. Discover…
Love tea, hate tannins? Rooibos tea is just what you need The market is brimming with a multitude of herbal teas. But what makes rooibos tea (or red bush)…
How to correctly perform nasal irrigation using a Neti Pot? Neti pot has been a part of Ayurveda since centuries. This ancient tool is extremely effective in treating…
Epley maneuver: Why is this the best protection from the symptoms of vertigo? Epley maneuver is an exercise that can treat the symptoms of benign paroxysmal positional vertigo (BPPV).  It was…
The Cabbage Soup Diet: The healthiest way to instant weight loss Cabbage soup diet rapid weight loss diet for those who want to shed those extra pounds in less…
Atkins diet weight loss
Atkins Diet: The right steps to carb control that can help you lose those pounds fast The Atkins diet is a high fat, low-carb diet with proven weight loss benefits that is flexible enough…
myelogram
Myelography Myelography is an important diagnostic tool that is used to investigate and identify abnormalities in the spine and…
chloride test
Chloride Test A chloride test of the blood checks the level of chloride in body, an important factor governing the…
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.…
Mood swings
The real reasons for your mood swings and how to overcome them Are you prone to heated moods frequently? Do you also feel bouts of depressive feeling creeping up on…
These are the top foods to increase your hemoglobin count It is important to add iron-rich foods into your diet in order to increase hemoglobin. Deficiency of hemoglobin could…
reflexology massage
Top reasons why you should go for a reflexology massage today Reflexology involves the application of pressure to your feet and hands to encourage self-healing. Could this be beneficial…
Balneotherapy jacuzzi
5 things you didn’t know about balneotherapy and how you can do it at home Sauna baths have been popular since a long time. But how much more beneficial can balneotherapy be as…
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…
ANTIPHOSPHOLIPIDANTIBODY(APL)_IgG
Antiphospholipid (APL) antibody-IgG The Antiphospholipid Antibody testing is a blood test used to determine an autoimmune disorder called Antiphospholipid syndrome linked…
valproic acid test
Valproic Acid Test Valproic acid test is performed to generally check for psychiatric and even neurological conditions such as bipolar disease…
phenytoin test
Phenytoin test Phenytoin is a drug that is administered mainly to epilepsy patients. The phenytoin blood test measures the level…
amylase test
Amylase Test Amylase test is done by checking the level of this protein in the blood sample and also in…
Rubella IgM test
Rubella IgM Test The Rubella IgM test is a blood test that is performed to diagnose the presence of the rubella…
vdrl test syphilis
VDRL Test The VDRL test is a blood test that is used to diagnose sexually transmitted or venereal diseases, primarily…
antihepatitis core antigent
Anti-Hepatitis B Core Antigen (AHBc) Total Anti-hepatitis B core antigen (AHBC ) is a blood examination and the only serological marker of infectious blood…
sodium blood test
Blood Sodium Test A blood sodium test measures the amount of sodium (an important electrolyte) in your body. It is also…
hidden benefits walking
9 benefits of walking we bet you didn’t know! Did you know walking can be the miracle pill for eternal youth? Everyone knows walking is good for…
stress depressed anxiety
Are you depressed or just stressed? Know when to see a doctor Why are some people more anxious than others? Is being depressed the same as feeling sad? Have you…
acne removal tips
Anatomy of acne: 7 instant steps to kiss those zits goodbye Blackheads, whiteheads, or pimples-call them what you may. Acne is never good news.Did you know some of the…