Stickler syndrome types III through VI result from mutations in other, related genes. In some cases, physical therapy may help with mobility problems associated with joint pain and stiffness. Cataracts are a clouding of the lens of the eye that some children are born with. The detail of all the practical and surgical interventions is beyond the scope of this article. To begin the diagnostic process, a doctor or other health care provider will take a medical history by asking questions about the patient's current symptoms and diagnoses. Conductive hearing loss can also be seen. Hi doctor, Specialist aids and care for protecting breathing / airways. Multiple Epiphyseal Dysplasia - It affects the long bones. Tapping on specific areas of the body to check for the presence of air, liquid, or solid structures. Auditory Hypermobile eardrum Stickler is believed to be the most common syndrome in the United States and Europe, but one of the rarest to be diagnosed. People who only have one changed copy of a gene that causes an autosomal recessive form of Stickler syndrome are known as carriers. Stickler syndrome and related disorders are a group of inherited conditions characterized by ocular abnormalities, hearing loss, and skeletal or joint problems. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). They also evaluate and care for individuals with birth defects, metabolic diseases, and diseases caused by the interaction of genetic and environmental factors. This is caused as a result of . It is a common condition and affects both males and females equally. Therapies for speech, and joint and muscle concerns (splints, braces, aids, physiotherapy). A medical geneticist is a doctor who has specialized training in diagnosing, treating, managing, and counseling individuals who either have, or are at risk, for diseases caused by a genetic change. Woman looking sad with someone standing next to her with their arm around her, +44 (0)33 3011 6388 (Helpline) info@hypermobility.org. In case of joint pain and stiffness, patients can be started on physiotherapy. Its the most common cause of retinal detachment (which can cause blindness if left untreated) in children. After the initial medical tests and visits to specialists are complete, a doctor will review the results and reports in a follow up visit. As noted above, the typical cataract found in Stickler syndrome is of a congenital quadratic lamellar type. What Are the Possible Complications of Stickler Syndrome? Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory manifestations. Stickler Syndrome - NORD (National Organization for Rare Disorders) Its main effects are on the eyes, joints, hearing and palate (roof of the mouth), although there are sub-groups that do not have effects in all of these areas. Cleft palate may be seen in the absence of micrognathia. Common symptoms of Stickler syndrome include overly flexible joints, a curved spine (scoliosis), osteoarthritis, hearing problems, vision impairment, prominent eyes, a small nose and chin and cleft palate. If your child has severe arthritis, joint surgery may be indicated. Cleft palate (opening in the roof of the mouth) Glossoptosis (abnormal placing of the tongue) Micrognathia (a small lower jaw) Eye abnormalities. Moran CORE | Stickler Syndrome - University of Utah Stickler syndrome COL11A2: It is also known as the Type III Stickler syndrome. A syndrome that causes vision, hearing and joint problems which is usually genetic in nature is called stickler syndrome. Keep a record of other past medical history, such as illnesses, allergies, surgeries, injuries, or other diagnoses. This is called full penetrance 7). Symptoms Children with Stickler syndrome may have difficulty breathing in infancy due to tongue-based obstruction secondary to a cleft palate and small lower jaw. and Intl. Thank you for visiting the new GARD website. Hypoplastic left heart syndrome (HLHS) is a birth defect that affects normal blood flow through the heart. About: Stickler syndrome - rarediseases.oscar.ncsu.edu A later study 16) reported mitral valve prolapse on echocardiogram in only one of 25 individuals with Stickler syndrome and a COL2A1 pathogenic variant. Stickler is a hereditary, progressive group of syndromes. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. Stickler syndrome affects 11-13 per 100,000 newborns. One such disorder is a hereditary condition affecting the connective tissue system of the body and causing impairment of vision, hearing, and problems with bone and joints. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. Tracks a childs milestones from age 2 months to 5 years with CDCs easy-to-use illustrated checklists. COL9A1, COL9A2, and COL9A3 may be tested for in individuals with possible autosomal recessive inheritance. Proptotic eyes, flat face with mild frontal bossing, depressed nasal bridge, and short nose. 2000 Jun 9 [Updated 2017 Mar 16]. What Are the Possible Differential Diagnosis of Stickler Syndrome? What Are the Various Ways to Diagnose Stickler Syndrome? My eye was itchy, and I rubbed it. Case presentation A 2-year-old . Refractive errors should be corrected with spectacles. It is reported that 30-40% of children diagnosed with Pierre Robin sequence are later re-diagnosed as having Stickler syndrome. Am J Med Genet. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1302/, Printzlau A, Andersen M. Pierre Robin sequence in Denmark: a retrospective population-based epidemiological study. Glue ear in childhood linked to cleft palate. Some children will also have abnormal hearing. Some of the common signs of Stickler syndrome include a distinctive facial appearance, hearing loss, eye conditions, and joint abnormalities. The miniature blood vessels prese Read Article. If your child can extend his arms or legs further than is comfortable for most people, your doctor may suspect Stickler syndrome, if other features of the syndrome are also present. An eye examination is also done to diagnose if cataracts and glaucoma are present. Offers a series of columns to help patients, families, and caregivers understand how important their role is. They may be associated with intrauterine amputations. 50% chance that the child will inherit the gene with a pathogenic variant, meaning he or she will have Stickler syndrome, 50% chance that the child will inherit the working copy of the gene, meaning he or she will not have Stickler syndrome, 25% chance that the child will inherit both changed copies of the gene, so he or she has Stickler syndrome, 50% chance that the child will inherit only one changed copy of the gene, so he or she is a carrier of the syndrome like each of the parents, 25% chance that the child will inherit both working copies of the gene, so he or she does not have Stickler syndrome and is not a carrier of the syndrome. When a person who has Stickler syndrometypes I, II, and III has children, for each child there is a: In some cases, people who have an autosomal dominant form of Stickler syndrome are the first people to be diagnosed in the family. Myopia (nearsightedness) Cataracts. You should contact an eye specialist if your child has any of the following symptoms: While theres no cure for Stickler syndrome, we have many methods of managing your childs symptoms and helping your child live a healthy, productive life. Stickler Syndrome - Causes, Symptoms, Diagnosis, Treatment & Prevention Test results and evaluations by specialists may confirm the suspected diagnosis. https://www.ncbi.nlm.nih.gov/pubmed/11224888, Liberfarb RM, Goldblatt A. But I do not want to go to the ER if it is unnecessary. Information about the disease may be limited. Abscess - Causes, Symptoms, Treatment, and Prevention, Budd-Chiari Syndrome - Causes, Symptoms and Treatment. Like all the other Heritable Disorders of Connective Tissue (HDCT) there are a range of signs and symptoms, and individuals can be affected in different ways. Diagnosis An ophthalmologist diagnoses Stickler syndrome with a physical examination and medical history. Offers tips to get the best care possible by taking an active role before, during, and after a visit to the doctor. Retinal Detachments - Vitreous humor, a gel-like substance, is present between the retina and lens. If your child has any of the warning signs [LINK to retinal detachment warning signs in When should we see a doctor? Orofacial Cleft palate One important difference between them is that the COL11A2 gene defect does not affect the eye. Laryngoscope. Genetic changes that are new in a person are called de novo 6). Stickler Syndrome - What is Stickler Syndrome | hear-it.org A clinical geneticist can discuss this in detail with you and arrange for it, if appropriate. GeneReviews [Internet]. Serial single-gene testing can be considered based on the individuals clinical findings and family history; however, findings should not be used to exclude specific testing: COL2A1 may be tested first in individuals with ocular findings including type 1 membranous congenital vitreous anomaly and milder hearing loss. Kniest Dysplasia - It is a skeletal disorder causing deformed arms and legs and abnormal stature. Marshall syndrome, which may be a variant of Stickler syndrome, is also caused by COL11A1 gene mutations. Stickler-Like syndrome symptoms & causes - FDNA Telehealth A diagnosis may become clear through these visits or only after specialized testing and referrals. Most of the time, the symptoms will be mild and do not provide a need to be diagnosed. At least one finding should be a major (2-point) manifestation (denoted by *). Types IV, V, and VI are very rare and have each been diagnosed in only a few individuals. This may also lead to ear infections, Micrognathia (the lower jaw is shorter than normal). Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss. Stickler syndrome is a genetic condition that affects connective tissue. Facial Deformities-Cleft Palate - It is a condition in which the roof of the palate will have an opening. More tests and specialist referrals may be needed to find the right diagnosis. The proposed criteria are based on assigning points for clinical features, family history data, and molecular data. enable_page_level_ads: true This combination of features can lead to feeding problems and difficulty breathing. When this happens, a patient and their doctor will repeat the diagnostic process. Stickler Involved People, a partner of The Marfan Foundation, provides additional information for those affected by Stickler syndrome. Treatment addresses the signs and symptoms of the disorder. Weve outlined below a number of criteria for Stickler syndrome according to the National Institutes of Health: Molecular genetic testing can be used to diagnose Stickler syndrome. What is Stickler syndrome? | Nicklaus Children's Hospital Plan questions to ask at the end of the visit to make certain everything is clear before leaving the doctor's office. How can Hypermobility Syndromes affect life insurance? Stickler syndrome signs and symptoms can include ocular findings of myopia, cataract, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis. They might include: Bone and joint problems, like stiff or too-flexible joints,. This leads to a drastic reduction in the smooth flow of blood to the brain. Clinical and molecular genetics of Stickler syndrome. Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. One child could have a mild form of the syndrome with just a few symptoms that may be so mild that they go undiagnosed or never need treatment. Eye problems. These signs and symptoms vary widely among affected individuals. The need for different specialists may change over time. Due to the smaller jaw size, enough space will not be present to house the entire dentition, and thus dental treatments will be required. Three phenotypes corresponding to three defective genes have been described in Stickler syndrome. This article is an overview of moyamoya disease. Cataract is . Stickler syndrome- type 3 - CheckOrphan Pain relievers. Hello doctor, https://www.ncbi.nlm.nih.gov/pubmed/12544472, Ahmad N, Richards AJ, Murfett HC, Shapiro L, Scott JD, Yates JR, Norton J, Snead MP. In a series of 502 cases of Stickler syndrome, a history of cleft repair was present in almost 40% of type 1 Stickler syndrome patients and 25% of type 2 Stickler syndrome patients, Pierre-Robin sequence being present in 13% and 1.5% of type 1 and type 2 patients, respectively. 30-40% of patients with Pierre Robin sequence have Stickler syndrome. Stickler syndrome can sometimes be diagnosed based on your childs medical history and a physical exam, additional tests are needed to determine the severity of the symptoms and help direct treatment decisions. That said, we have many methods of treating those symptoms and, with help, your child can live a healthy, happy life. Speech therapy can be started to overcome speech disorders in the case of cleft palate. Published on Aug 19, 2022 Marshall syndrome, caused by a COL11A1 mutation, has clinical overlap with Stickler syndrome. But what about these strokelike symptoms, the mother asked. If treatment is necessary, doctors can use medications to treat symptoms such as chest pain and palpitations. Each finding is given a certain number of points. More commonly, the arthropathy is mild, and affected individuals often do not complain of joint pain unless specifically asked. Stickler Syndrome | Causes, Signs, & Symptoms | Marfan Foundation First described by Dr Gunnar B Stickler in 1965, Stickler syndrome is a connective tissue condition that results in a distinctive facial appearance, eye abnormalities, hearing loss and joint problems including hypermobility. All of the genes associated with Stickler syndrome provide instructions for making components of collagens, which are complex molecules that give structure and strength to the connective tissues that support the bodys joints and organs. Consult over 3M existing patients and increase your online brand presence. An opening in the roof of the mouth (cleft palate). - Related Questions What is hypoplastic heart syndrome? Some also have a small jaw and other related problems, such as a, Eye abnormalities: Eye exams can detect eye problems such as, Hearing problems: Your childs doctor may test early on for any. However, it is not a life-threatening condition most of the time. PRS may arise spontaneously (in about 40% of cases) or a consequence of Sticklers syndrome, Foetal Alcohol syndrome and other rare conditions such as Treacher Colins syndrome. You inherit one copy of every gene from your mother and the other from your father. Some degree of sensorineural hearing impairment (typically high-tone, often subtle) is found in 40% of individuals 11). Between 80 and 90 percent of all cases are classified as type I and are caused by mutations in the COL2A1 gene. Stickler syndrome - Diagnosis & Treatment - Genetic and Rare Diseases High risk of retinal detachments (tearing of the lining of the eye), which may affect both eyes. Directed history to elicit complaints suggestive of mitral valve prolapse, such as episodic tachycardia and chest pain. Myringotomy tubes are often required. https://www.ncbi.nlm.nih.gov/pubmed/14697070, Snead M, Yates J. Therapeutic and diagnostic advances in Stickler syndrome The chief symptoms of Stickler syndrome usually vary from person to person, even within the same family. Stickler Syndrome - Definition, Types, Causes and Treatment Moyamoya disease is a sparse vascular or blood vessel disorder wherein the carotid arteries in the individuals skull turn very narrow and eventually get blocked. Testing may be done to assess if other family members are also affected. Other cases result from new mutations. For those children who do need treatment, we focus on managing your childs symptoms. Marshall syndrome also typically has an autosomal dominant pattern of inheritance. Most cases of Stickler syndrome are inherited in an autosomal dominant manner, which means that a child needs to have only one abnormal copy of the responsible gene to be affected. An ophthalmologist provides both medical and surgical care. Touching areas of a person's body to check for pain, tenderness, swelling, lumps, masses, or other changes. Stickler syndrome types I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Stickler syndrome signs and symptoms Eyes Short-sight (myopia) Abnormal appearance of the vitreous gel. Glue ear in childhood caused by cleft palate. The condition is characterized by facial abnormalities, ocular problems, hearing loss, and joint problems. High risk of retinal detachments (tearing of the lining of the eye), which may affect both eyes. Hearing loss. Stickler Syndrome Type 2 (STL2): Symptoms, Diagnosis and Treatment 1986;24:38792. Stickler Syndrome may lead to blindness, hearing loss, increased flexibility of joints and/or causing joint pain or stiffness, back pain due to abnormal curvature of the spinal cord. Stickler syndrome: MedlinePlus Genetics pain relief, management of glaucoma. Facial differences: Your child may have a small lower jaw and a face that looks flat because of small bones in their midface. -5 min read. section], contact an eye specialist as soon as possible. Appearance usually improves with age. In some cases, an affected person inherits a gene mutation from one affected parent. For the vast majority with Stickler syndrome life expectancy is normal and individuals will lead full lives. Stickler syndrome: Reviewed by Joan M. Stoler, MD The Patient's Toolkit was designed for patients visiting their healthcare provider to help tell their story clearly. This is a rare trio of cleft palate, retrognathia (small lower jaw leading to an over-bite), and backward displacement of the tongue. 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