Stickler syndrome : Causes-Symptoms-Diagnosis-Treatment

 What Is Stickler Syndrome?

Stickler syndrome is a genetic disease that influences connective tissues in most cases inside the face, ears, eyes and joints. This hereditary circumstance causes distinctive facial abnormalities. It can lead to troubles with vision, hearing and movement.

Doctors generally diagnose Stickler syndrome in babies and youngsters. It is likewise referred to as Stickler dysplasia. It is associated with Marfan syndrome, any other connective tissue ailment.

Stickler syndrome is a collection of hereditary situations characterized by a unique facial look, eye abnormalities, hearing loss, and joint troubles. These signs and symptoms range widely among affected people.

What Is Stickler Syndrome?
Stickler Syndrome

A feature characteristic of Stickler syndrome is a relatively flattened facial look. This appearance results from underdeveloped bones in the middle of the face, inclusive of the cheekbones and the bridge of the nostril. A unique institution of physical functions known as the Pierre Robin series is also common in people with Stickler syndrome. The Pierre Robin series includes a gap within the roof of the mouth (a cleft palate), a tongue that is located in addition again than ordinary (glossoptosis), and a small decreased jaw (micrognathia). This aggregate of features can result in feeding problems and issue respiration.

Many humans with Stickler syndrome have severe nearsightedness (excessive myopia). In some instances, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance that is considerable at some stage in an eye examination. Other eye problems are also common, together with accelerated strain inside the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the lining of the attention (retinal detachment). These eye abnormalities cause impaired vision or blindness in a few instances.

In humans with Stickler syndrome, listening to loss varies in diploma and might grow to be extra severe over time. The listening to loss can be sensorineural, meaning that it results from adjustments inside the internal ear, or conductive, that means that it's miles caused by abnormalities of the center ear.

Most human beings with Stickler syndrome have skeletal abnormalities that have an effect on the joints. The joints of affected youngsters and teens can be unfastened and really flexible (hypermobile), although joints end up less bendy with age. Arthritis often seems early in lifestyles and may cause joint pain or stiffness. Problems with the bones of the backbone (vertebrae) also can occur, such as abnormal curvature of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). These spinal abnormalities can also cause lower back pain.

Researchers have defined several sorts of Stickler syndrome, which can be prominent via their genetic reasons and their styles of signs and symptoms and signs and symptoms. In particular, the attention abnormalities and severity of hearing loss range a number of the types. Type I has the highest danger of retinal detachment. Type II also consists of eye abnormalities, but type III does not (and is frequently called non-ocular Stickler syndrome). Types II and III are much more likely than kind I to have full-size hearing loss. Types IV, V, and VI are very rare and have been diagnosed in just a few individuals.

A condition just like Stickler syndrome, referred to as Marshall syndrome, is characterized by a specific facial look, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome also can include brief stature. Some researchers have labeled Marshall syndrome as a variation of Stickler syndrome, whilst others do not forget it to be a separate disease.

  1. Medical And Anatomical Concept Of The Human Body

Medical terms

  • Stickler syndrome is a genetic ailment which could reason critical vision, listening to and joint troubles. Also known as hereditary revolutionary arthro-ophthalmopathy, Stickler syndrome is usually diagnosed throughout infancy or adolescence.
  • Children who've Stickler syndrome often have one-of-a-kind facial capabilities — outstanding eyes, a small nose with a scooped-out facial look and a receding chin. They are frequently born with an opening inside the roof of the mouth (cleft palate).
  • While there is no cure for Stickler syndrome, treatments can help control signs and symptoms and save you headaches. In some instances, surgical treatment may be hard to accurately assess some of the physical abnormalities associated with Stickler syndrome.
  • Stickler syndrome is a genetic disorder that can affect your eyes ears and joints Although Stickler syndrome doesn't cause symptoms in every person who has the condition children with Stickler syndrome often have other health problems including: A small jaw (mandibular hypoplasia) Vision problems Your child may be nearsighted or farsighted and may have cloudy corneas and vision loss that gets worse as he gets older He may also have lazy eye (amblyopia) cataracts and glaucoma These issues usually worsen over time Hearing loss This hearing loss typically becomes more severe as your child grows up He may have fluid-filled cy.

Stickler syndrome is a rare non-hereditary connective tissue disorder It's also known as craniofacial dysostosis or MIM #230400 Affected individuals have abnormalities of their facial and skull bones The condition results from a loss of normal amounts of collagen the protein that strengthens and supports connective tissue Symptoms include: Abnormal facial features including wide-set eyes (hypertelorism) down-slanted palpebral fissures (the space between the eyelids) underdeveloped midface and an elongated head shape Skeletal abnormalities including hyperextensible joints and dislocated joints Disrupted development of teeth.

Types Stickler syndrome

the next.

  • Stickler syndrome type 1: This kind of Stickler syndrome is resulting from a mutation inside the COL2A1 gene, and generally functions as a sparse or absolutely empty vitreous humor (part of the eye).

  • Stickler syndrome type 2: This shape of the ailment is caused by a mutation inside the COL11A1 gene and features vitreous humor with a beaded texture.

  • Stickler syndrome type 3: This form of Stickler syndrome is as a result of a mutation inside the COL11A2 gene on chromosome 6p21.3, and it’s called the nonocular type that primarily influences the joints and hearing.

  • Stickler syndrome types 4 and 5: These variations of the disorder have very particular gene mutations, but have most effective been observed in a handful of intermarried families.

Symptoms Stickler syndrome

Symptoms of Stickler syndrome vary broadly from man or woman to individual. It is rare for people to enjoy all of the functions associated with the sickness.

Stickler syndrome type I (STL1) is chargeable for approximately 70% of pronounced cases and offers with a huge style of signs affecting the attention, ear, facial look, palate and musculoskeletal machine and happens due to mutations over the entire COL2A1 gene on chromosome 12q13.11. These mutations cause loss of function of the COL2A1 gene. The majority of these mutations are associated with regular stature and early onset osteoarthritis. Only some non-glycine missense mutations have been pronounced and amongst those, the arginine to cysteine substitutions predominate and those mutations cause some unusual issues which can be described as Stickler-like but have brief stature and brachydactyly. The inheritance sample for Stickler syndrome type I is autosomal dominant.

Stickler syndrome kind II (STL2) occurs because of mutations of the COL11A1 gene on chromosome 1p21. Patients with some other situation, known as Marshall syndrome, can have mutations of COL11A1 additionally, but patients with Stickler syndrome type II have a milder phenotype with less outstanding facial dysmorphism than patients with Marshall syndrome.  Patients with Stickler syndrome kind II have less said midfacial knocking down and the nasal bridge higher advanced than visible in sufferers with Marshall syndrome. Myopia and retinal degeneration aren't constantly present. Cataracts and extra intense early onset listening to loss are extra commonplace in Stickler type II than in sufferers with Stickler kind I. The inheritance sample is autosomal dominant.

Stickler syndrome type III (STL3) has been defined as the non-ocular form of Stickler syndrome, affecting the joints and listening without regard to the eyes.  Stickler syndrome type III is resulting from mutations of the COL11A2 gene on chromosome 6p21.3. The inheritance sample is autosomal dominant. This form is now taken into consideration for the equal ailment as heterozygous oto-spondylo-meta epiphyseal dysplasia (OSMED). For more statistics on heterozygous OSMED see the NORD report on this disease.

A mutation in a fourth gene, COL9A1, located on chromosome 6q13, has been recognized in 3 pronounced intermarried families in Turkey and Morocco with Stickler syndrome kind IV or STL4.The inheritance pattern is autosomal recessive.

Stickler syndrome kind V (STL5) is thought to be because of COL9A2, located on chromosome 1p33.  This has been described in a single intermarried family in India.  The inheritance pattern is autosomal recessive.

Mutations of COL9A3 have recently been suggested in 3 brothers in an intermarried Moroccan circle of relatives with functions of Stickler syndrome and highbrow incapacity.

Stickler syndrome has also been subdivided primarily based on the vitreous phenotype as a consequence of mutations in the numerous loci. However, it's been mentioned that it is difficult for maximum ophthalmologists to classify the form of vitreous anomalies within the patients with Stickler syndrome.

The signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — can vary widely from individual to character, even within the equal family.

  • Eye problems. In addition to having extreme nearsightedness, children who have Stickler syndrome frequently revel in cataracts, glaucoma and retinal detachments.

  • Hearing difficulties. The quantity of hearing loss varies amongst human beings who've Stickler syndrome. It generally influences the capacity to pay attention to excessive frequencies.

  • Bone and joint abnormalities. Children who have Stickler syndrome frequently have overly bendy joints and are much more likely to increase bizarre curvatures of the spine, including scoliosis. Osteoarthritis can start in formative years.

When to see a doctor

Regular observe-up visits, as well as every year visits to doctors focusing on eye issues, are critical to monitor any development of signs and symptoms. Early remedy can assist save you existence-altering headaches. Hearing has to be checked every six months in kids through age five and then yearly thereafter.

Causes Stickler syndrome

Stickler syndrome happens when there may be a mutation to one of the genes that allows the creation of collagen. Collagen is a protein that basically facilitates maintaining your frame together. It connects and helps your muscle mass, pores and skin, and bones.

Most humans with Stickler syndrome inherit it in an autosomal dominant way. This manner you most effectively want to inherit one copy of the mutated gene to get the condition.

Stickler syndrome is resulting from mutations in certain genes worried in the formation of collagen — one of the building blocks of many varieties of connective tissues. The sort of collagen maximum typically affected is that used to supply joint cartilage and the jellylike cloth (vitreous) observed inside the eyes.

Risk factors Stickler syndrome

People who've a member of the family with Stickler syndrome are at a higher threat of getting the ailment. In maximum cases, it's miles inherited. But in some people, a spontaneous genetic change causes it.Your child is much more likely to be born with Stickler syndrome if either you or your associate has the disorder.

Complications Stickler syndrome

The complications of Stickler syndrome vary depending on the signs a person reviews.Potential headaches of Stickler syndrome encompass:

  • Difficulty breathing or feeding. Breathing or feeding difficulties may also occur in babies born with an opening inside the roof of the mouth (cleft palate), a small decreased jaw and an inclination for the tongue to drop back in the direction of the throat.

  • Blindness. Blindness can occur if retinal detachments aren't repaired promptly.

  • Ear infections. Children with facial shape abnormalities associated with Stickler syndrome are more likely to develop ear infections than are children with normal facial structure.

  • Deafness. Hearing loss associated with Stickler syndrome can also worsen with time.

  • Heart problems. Some people with Stickler syndrome can be at higher hazard of coronary heart valve issues.

  • Dental problems. Most kids who've Stickler syndrome have abnormally small jaws, so there frequently isn't always sufficient room for the total complement of a person 's enamel. Braces or, in a few cases, dental surgical procedures may be necessary.

What is the life expectancy of Stickler syndrome?

The life expectancy of a person with Stickler syndrome is not known.

Does Stickler syndrome get worse?

The exact cause of Stickler syndrome is unknown It is a genetic disorder meaning that it is caused by a mutation in the DNA passed from parents to children through genes A person with Stickler syndrome inherits two copies of the mutated gene one from each parent This means that their child has a 50 percent chance of developing the condition A child who develops Stickler syndrome will have symptoms similar to those of his parents and siblings.

Is Stickler syndrome painful?

Stickler syndrome or oculo-osteo-dento-renal (OODR) syndrome is a genetic disorder that can cause pain and other symptoms in the eyes ears face teeth joints and kidneys The condition leads to premature osteoarthritis and requires ongoing monitoring of the heart lungs and blood vessels Stickler syndrome occurs in about one in 50,000 people worldwide There is no cure for the disease but symptoms can be managed with medication and lifestyle changes Uneven tooth alignment is among the most common signs of Stickler syndrome.

Is Stickler syndrome fatal?

Stickler syndrome is a hereditary disorder that primarily affects the eye, ears and joints. It is an uncommon condition that occurs in about 1 in every 100,000 births. Stickler syndrome can affect both males and females of any race or ethnicity.

Does Stickler syndrome affect intelligence?

Stickler syndrome can affect intelligence in several ways Children with Stickler syndrome may have mild cognitive impairment and slow verbal learning according to the website of the National Center for Biotechnology Information It may also interfere with executive functions that are related to attention memory and reasoning The symptoms vary between individuals and also change as the child grows older so it is difficult to predict how Stickler syndrome will affect an individual’s intelligence.

 Stickler syndrome? The first signs of Stickler syndrome usually appear in childhood In general people with this condition have normal vision and hearing during the first year of life Stickler syndrome is characterized by abnormalities of the eyes (ocular) ears (auditory) and bones (skeletal) The ocular symptoms include: progressive myopia (nearsightedness) which is a gradual shortening of the distance between the cornea and retina; poor vision or blindness in one or both eyes; glaucoma a group of eye diseases that damage the optic nerve and cause vision loss; retinal detachment an abnormal separation of the retina from its underlying layer.

Prevention Stickler syndrome

Stickler syndrome is a rare genetic disease that causes abnormalities in the connective tissues The most common symptoms of Stickler syndrome are hearing loss vision loss and joint problems although other symptoms can include dry eyes droopy eyelids facial abnormalities and heart defects While there’s no cure for Stickler syndrome at this time there are treatments available for its various symptoms For instance the vision loss caused by Stickler syndrome may be treated with glasses or eye surgery In addition medications can relieve joint pain and help prevent infections in people who have problems with their immune system.

You can not prevent Stickler syndrome. People with a circle of relatives with a history of the circumstance who need to have youngsters must try to find genetic counseling to study the threat of having a toddler with the disorder.


Diagnosis Stickler syndrome

A diagnosis of Stickler syndrome is made based upon a radical scientific assessment, a detailed affected person history and identification of characteristic findings. As but, no universally agreed upon standards for the diagnosis of Stickler syndrome exists. A kind of test along with x-ray studies and eye examinations may be used to hit upon the presence or examine the severity of positive abnormalities probably associated with Stickler syndrome.

While Stickler syndrome can occasionally be recognized primarily based on your child's scientific history and a bodily examination, additional checks are needed to decide the severity of the symptoms and help direct treatment selections. Tests can also include:

  • Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine.

  • Eye exams. These assessments can help your health practitioner detect troubles with the jellylike cloth (vitreous) that fills the attention or with the lining of the eye (retina), that is critical for sight. Eye checks can also test for cataracts and glaucoma.

  • Hearing tests. These exams degree the potential to come across one-of-a-kind pitches and volumes of sound.

Genetic checking out is to be had to assist in prognosis in a few cases. Genetic trying out can also be used to assist in the circle of relatives planning and to decide your threat of passing at the gene on your children whilst the hereditary pattern is not clear from the circle of relatives history. Genetic counseling must be provided for affected humans.

Treatment Stickler syndrome

We view the analysis as a place to begin: Now we’re able to begin the system of treating your child — with all the way at our disposal — in order that we might also efficiently control the situation and permit your toddler to have a healthy life.

Stickler syndrome may be a complicated situation, and it affects specific youngsters in one of a kind ways. Some children with Stickler syndrome may not need to be treated in any respect.

For those youngsters who do want remedy, we pay attention to coping with your baby’s signs.

Treatments fall into numerous classes, relying on what part of your infant’s frame is affected.

There's no therapy for Stickler syndrome. Treatment addresses the signs and symptoms and symptoms of the sickness.


  • Speech therapy. Your child may also want speech remedy if listening to loss interferes together with his or her ability to discover ways to pronounce sure sounds.

  • Physical therapy. In some instances, bodily therapy may assist with mobility problems related to joint pain and stiffness. Equipment including braces, canes and arch supports might also help.

  • Hearing aids. If your baby has issues hearing, you can find that his or her satisfaction in life is advanced by way of listening to resources.

  • Special education. Hearing or vision troubles may additionally motivate studying problems in school, so unique schooling offerings can be useful.


  • Tracheostomy. Newborns with very small jaws and displaced tongues might also want a tracheostomy to create a hole within the throat for you to breathe. The operation is reversed as soon as the toddler has grown big enough that his or her airway is now not blocked.

  • Jaw surgery. Surgeons can extend the lower jaw through breaking the jawbone and implanting a device that will steadily stretch the bone because it heals.

  • Cleft palate repair. Babies born with a hole in the roof of the mouth (cleft palate) generally go through surgical operation in which tissue from the roof of the mouth can be stretched to cover the cleft palate.

  • Ear tubes. The surgical placement of a quick plastic tube in the eardrum can help reduce the frequency and severity of ear infections, which are especially not unusual in youngsters who have Stickler syndrome.

  • Eye surgeries. Surgeries to do away with cataracts or techniques to reattach the liner of the back of the eye (retina) may be essential to keep imaginative and prescient.

  • Joint replacement. Early-onset arthritis, mainly inside the hips and knees, may additionally necessitate joint alternative surgeries at a far younger age than is standard for the overall populace.

  • Spinal bracing or fusion surgeries. Children who expand peculiar curves of their spines, including the ones seen in scoliosis and kyphosis, may additionally require corrective surgical treatment. Milder curves frequently may be dealt with with a brace.

Lifestyle and home remedies

  • Try pain relievers. Over-the-counter tablets which include ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) can also help relieve joint swelling, stiffness and pain.

  • Avoid contact sports. Strenuous physical pastime may additionally strain the joints, and call sports, such as football, may additionally increase the chance of retinal detachment.

  • Seek educational help. Your toddler might also have trouble in the faculty due to troubles hearing or seeing. Your infant's instructors want to be aware of his or her unique desires.

Preparing for your appointment

In many instances, the signs and symptoms and signs and symptoms of Stickler syndrome might be apparent while your baby is still inside the sanatorium after beginning. After diagnosis, your child should be monitored frequently via doctors who specialize in areas unique to your baby's circumstance.

What you can do

Before your appointment, you may need to write down a listing of solutions to the following questions:

  • Has anyone in your immediate or extended family had problems similar to this?

  • What medications and supplements does your child take?

  • Are your child's vision or hearing problems interfering with his or her schoolwork?

What to expect from your doctor

Your doctor may ask some of the following questions:

  • Does your child seem to have any vision problems?

  • Has your child ever seen an abundance of floaters or flashing lights within his or her eyes?

  • Does your child seem to have any trouble hearing?

  • Have any of your child's symptoms worsened recently?

  • Does your child limp or complain of joint pain?

General summary

  1. Stickler syndrome is a rare genetic disorder that affects many parts of the body It causes excess collagen in connective tissue and improper development or incomplete fusion of bones A person with Stickler syndrome may have hearing loss and vision problems as well as heart defects and learning disabilities The severity of symptoms varies from person to person with some having mild symptoms and others having severe complications Treatment focuses on managing associated health problems and preventing further complications.

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