How Stickler Syndrome Affects the Face and Body
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Medically reviewed by Leah Ansell, MD
Stickler syndrome is a group of rare, genetic disorders. It is caused by a mutation (change) in one of the genes that controls a connective tissue called collagen. Since connective tissue is found in many organ systems, this syndrome can cause symptoms that affect your face, eyes, ears, bones, and heart.
Signs of Stickler syndrome include a unique facial structure, eye problems, hearing loss, and loose joints. Some symptoms—like hearing loss—can worsen over time. While there is no cure, treatments can correct and reduce the effects of some symptoms.
This article describes how Stickler syndrome affects your body and face. It also discusses Stickler syndrome symptoms, diagnosis, treatment, and outlook.
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What Is Stickler Syndrome?
Stickler syndrome is a connective tissue disorder. It is usually inherited in an autosomal dominant pattern, meaning that if one parent has a defective gene for Stickler syndrome, each of their children has a 50% chance of getting the disorder.
Takeaway
The parent doesn't need to have symptoms of Stickler syndrome to pass it on to a child. It can also occur in people who have no family history of Stickler syndrome.
Stickler syndrome is most often caused by gene defects that produce a collagen protein. Collagen makes up connective tissue, which surrounds or supports organs and other tissue types for structural and metabolic purposes. Connective tissue exists throughout your body, especially in your face, eyes, ears, and joints.
Defective connective tissue can impact your ability to see, hear, and move normally.
Having Stickler syndrome can make you more likely to develop arthritis, cataracts, glaucoma, and hearing loss at an early age.
Stickler Syndrome Symptoms
Stickler syndrome symptoms can vary widely by person, even among affected members of the same family. Symptoms may be so mild in some children that the condition may remain undiagnosed, without needing treatment. However, another child may have multiple symptoms affecting more than one body part.
Stickler syndrome symptoms typically affect a child's eyes, ears, face, heart, bones, and/or joints. These symptoms can include the following:
Vision and Eye Health Symptoms
Cataracts (clouding of the eye lens)
Retinal detachment (separation of the retina from the back of the eye, with the potential to cause blindness if left untreated)
Astigmatism (eye lens or cornea that is not spherical)
Vitreous degeneration (gel within the eye liquefies and pulls away from the retina)
Glaucoma (high eye pressure that can damage the optic nerve)
Hearing and Ear Health Symptoms
Hearing loss in the middle or inner ear (can become more severe and lead to deafness over time)
Frequent ear infections
Joints and Bone Symptoms
Joint pain/enlarged joints
Osteoarthritis (degenerative joint disease)
Double-jointed (abnormally flexible, loose joints)
Valgus knee alignment (knock-knees)
Scoliosis (curvature of the spine)
Legg-Calve-Perthes disease (hip degeneration)
Kyphosis (hunched back)
Facial Features and Mouth Symptoms
Flat cheeks and nasal bridge (most noticeable in infants)
Small lower or upper jaw
Split uvula (the tissue that hangs down in the back of the throat is divided)
Palate abnormalities such as cleft palate or obstructed airway
Pierre Robin sequence (small jaw, cleft palate, tongue placement and size abnormalities, and difficulty breathing and feeding)
Long philtrum (vertical groove between the upper lip and the base of your nose)
Orthodontic issues such as malocclusion (misalignment of upper teeth over lower teeth)
Heart Symptoms
Mitral valve prolapse (a defect in which the valve between the left heart chambers doesn't function properly)
Six Types of Stickler Syndrome
The six types of Stickler syndrome, which become progressively severe, are:
Most common types:
Type 1: Symptoms mainly affect the eyes, including retinal detachment, cataracts, glaucoma, and myopia. A cleft palate may occur.
Type 2: Symptoms are similar to type I with the addition of beaded vitreous (gel-like fluid in the eye).
Type 3: Symptoms are similar to type 1 but there is no involvement of the eyes.
Very rare types:
Type 4: Symptoms include moderate-to-severe hearing loss, moderate-to-high myopia with abnormally aged vitreous, cataracts, and spondyloepiphyseal dysplasia (mild enlargement of the ends of long bones causing short stature).
Type 5: Symptoms include mild-to-moderate hearing loss, high myopia, and vitreoretinopathy (formation of scar tissue or membranes on the retina).
Type 6: Symptoms include the most severe forms of myopia, hearing loss, joint pain, and misshapen bones.
When and How Is Stickler Syndrome Diagnosed?
Some babies are born with characteristic facial features—such as a flat midface and depressed nasal bridge—or other symptoms related to Stickler syndrome, which can indicate the condition at birth. A family history of Stickler syndrome will also factor into the diagnosis. Others may not receive a diagnosis until symptoms evolve and worsen in childhood or later.
Since some symptoms of Stickler syndrome produce such minor effects, many people ignore their ailments and do not seek a diagnosis. Many other people will be misdiagnosed, especially if just one symptom is present.
While about 1 in 10,000 people have Stickler syndrome, frequent underdiagnoses and misdiagnoses are common. Only a small percentage of people affected likely know they have Stickler syndrome.
Stickler syndrome is diagnosed with a physical examination, a detailed patient history, and the identification of known syndrome characteristics. While a scoring system that uses clinical features, family history, and molecular data for diagnosis has been proposed, there is not a uniform consensus regarding diagnostic criteria.
The following tests may be used to confirm abnormalities consistent with Stickler syndrome:
X-rays (medical imaging that uses small amounts of electromagnetic radiation to create images of structures inside your body) to reveal joint and spine abnormalities
Eye exams for myopia, cataracts, and glaucoma
Tests for hearing loss such as an Otoacoustic Emissions (OAE) test or brain stem auditory evoked response (BAER) test
Joint flexibility test to determine whether a child can extend his arms or legs farther than is comfortable for most people (a positive finding in Stickler syndrome)
Molecular genetic testing is used to confirm a diagnosis in a child born with symptoms and/or risk of the condition. A mutation of one of the following collagen genes is linked to Stickler syndrome:
COL2A1
COL11A1
COL11A2
COL9A1
COL9A2
COL9A3
Genetic testing can confirm gene mutations or abnormalities linked with Stickler syndrome. This can identify whether your baby has a genetic predisposition (genetic susceptibility) to Stickler syndrome. However, a diagnosis is typically made after birth, when a comprehensive physical assessment can be performed.
How Is Stickler Syndrome Treated?
There is no cure for Stickler syndrome. However, treatments can help control symptoms and prevent complications. Treatment plans are individualized based on the types of symptoms you experience and how they affect you. Surgery may be an option for certain physical abnormalities or functional problems like cleft palate.
Some of the most common treatments for Stickler syndrome include the following:
Surgery
Eye surgery to remove cataracts or reattach the retina to preserve vision
Joint replacement, especially in the hips and knees, for joints damaged by arthritis
Ear tubes to reduce the frequency and severity of ear infections
Cleft palate repair to correct the hole in the roof of the mouth that occurs with this condition
Jaw surgery to lengthen the lower jaw
Tracheostomy to create a hole in the throat so newborns with small jaws can breathe, which is later reversed as the jaw grows
Spinal fusion surgery to correct severe cases of scoliosis and kyphosis
Heart surgery to correct severe cases of mitral valve prolapse
Therapy and Assistive Devices
Speech therapy for children with hearing loss to help them pronounce certain sounds
Physical therapy to help with mobility problems caused by joint pain and stiffness
Braces, walking canes, and arch supports to support normal movement
Spinal brace to treat mild spinal curvatures
Hearing aids to improve sounds for people with hearing loss
Special education for children whose hearing or vision problems interfere with their learning
Corrective eyeglasses or contact lenses to improve vision
Orthodontic treatment to correct misaligned teeth
Medications
Medications to treat symptoms such as chest pain, palpitations, irregular heart rhythms, and other symptoms of mitral valve prolapse
Nonsteroidal anti-inflammatory drugs (NSAIDs) such as Advil or Motrin (ibuprofen) to relieve joint swelling, stiffness, and pain
Lifestyle Modifications
Restrictions on participating in contact sports or high-impact exercises because of the increased risk of joint damage and retinal detachment with Stickler syndrome
Educational help for affected children to address special learning needs
Does Stickler Syndrome Qualify as a Disability?
A diagnosis of Stickler syndrome does not automatically qualify as a disability, though some symptoms of the condition may meet the criteria for this designation.
According to the Americans with Disabilities Act (ADA), a person with a disability meets the following criteria:
A physical or mental impairment that substantially limits one or more major life activities
A history or record of such an impairment
Being perceived by others as having such an impairment
If you have symptoms of any disease that meets this criteria and can prove you have an impairment, you may be eligible for disability insurance from the Social Security Administration (SSA).
Outlook for Stickler Syndrome
The outlook for Stickler syndrome varies by individual, though the condition is not considered fatal. Most children born with this condition live full, healthy lives.
A child with Stickler syndrome usually has normal intelligence. However, some children may have learning disabilities due to abnormal vision or hearing.
Your quality of life with Stickler syndrome will be affected by the degree of deafness, visual loss, speech impairment, and/or joint disease that your symptoms cause. Regular checkups can help you get an early diagnosis and treatment for symptoms as they arise and change during your lifetime. Monitoring eye health is especially important because Stickler syndrome is children's most common cause of retinal detachment.
Since this is a progressive disorder, symptoms may change, become more severe, or recur after treatment. While symptoms typically don't reduce life expectancy, some can lead to complications that can increase your risk of serious problems. For example, untreated cataracts can cause blindness.
Summary
Stickler syndrome is a connective tissue disorder with six subtypes. It occurs due to defects in the gene that controls collagen, the protein that makes up connective tissue. Stickler syndrome is often passed to a child from a parent who carries a damaged gene. It can also occur in people without a family history.
Stickler syndrome can cause many symptoms that affect your face, ears, eyes, bones, and heart. The impact of Stickler syndrome can differ for those who have it in the same family.
Symptoms can range from mild to severe based on the subtype of Stickler syndrome that occurs. Some people have symptoms that cause such little impact they never seek a diagnosis. Others seek care for symptoms but do not get the right diagnosis.
There is no cure for Stickler syndrome. Treatment is aimed at symptoms and physical deformities. Seeking an early diagnosis and treatment for symptoms of this progressive disorder can help you avoid severe problems.
