Epidemiology Its incidence is 1 in 7500 live births 5. For a general phenotypic description and a discussion of genetic heterogeneity of Stickler syndrome, see 108300. Stickler syndrome, also called Marshall-Stickler syndrome, is a genetic disease caused by the occurrence of mutations in the genes encoding collagens (COL2A1, COL11A1, COL11A2). Health Technol Assess. High myopia and vitreous degeneration dominate the ocular manifestations of Stickler syndrome, type I. Pierre Robin sequence is a set of abnormalities affecting the head and face, consisting of a small lower jaw ( micrognathia ), a tongue that is placed further back than normal (glossoptosis), and blockage (obstruction) of the airways. Background: Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is an inherited progressive disorder of the collagen connective tissues. Stickler syndrome (STL) is a genetic disease affecting several organs. Stickler is a progressive disorder. Stickler syndrome is an autosomal dominant hereditary progressive arthro-ophthalmology condition characterized by congenital abnormalities of the eye, micrognathia, and a cleft palate. Stickler syndrome is an autosomal dominant connective tissue disorder with a prevalence similar to that of Marfan syndrome. Manifestations include short-sightedness, cataracts, retinal problems leading to retinal detachment and possible blindness. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. She had alternating eye turns, especially noticeable in photos that I had taken of her. The clinical effectiveness and safety of prophylactic retinal interventions to reduce the risk of retinal detachment and subsequent vision loss in adults and children with Stickler syndrome: a systematic review. There are also recorded cases where the condition has occurred for the first time in a child. 2011; 15:iii-xiv, 1-62. Stickler Syndrome Support Group aims to raise awareness of Stickler syndrome amongst the medical profession; promote the value of early diagnosis for adults and children with the condition to help preserve vision, particularly the prevention of blindness in children and adults. Because the vitreous gel in children with Stickler syndrome looks somewhat similar to vitreous gel from elderly people without Stickler syndrome, Dr. Hwang is researching . Stickler syndrome is a group of genetic conditions that affects connective tissue, specifically collagen. Stickler syndrome (hereditary progressive arthro-ophthalmodystrophy) is a group of very rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is a genetic disorder that causes problems with how the body makes collagen. Call 800-789-7366 Request Callback. Dr. Drivas is a Penn Medicine physician. The sclera is the white outer coat of the eye, surrounding the iris may be thinned in congenital diseases such as osteogenesis imperfecta 1). Prevalence is approximately 1 in 10,000 (similar to that of Marfan syndrome). Treatment varies from person to person. Arthritis often appears early in life and may cause joint pain or stiffness. Blue sclera is caused by thinness and transparency of the collagen fibers of the sclera that allow visualization of the underlying uvea (Figure 1). Or else, if the stickler syndrome symptoms are mild or . This is known as a spontaneous mutation. Some people inherit Stickler syndrome from a parent. The phenotype may be quite variable both within and between families. 2. Other clinical features include flat midface, intracranial calcifications, and deafness. Since we were concerned, we had her examined by a pediatric optometrist at 3 1/2 months. Stickler syndrome is a multisystem connective tissue disorder that can affect the craniofacies, eyes, inner ear, skeleton, and joints. We do not currently receive any government funding and rely totally on the generosity of donations. 3-7. Estimation of Stickler syndrome in new borns is from 1 in 7500 to 1 in 9000. Type 1 Stickler syndrome carries a high risk of bilateral retinal detachment--incidental finding of a Giant Retinal tear in one eye and multiple retinal breaks in the fellow eye. Stickler syndrome is an autosomal dominant genetic disorder which means that affected individuals have a 50 percent chance of passing along the syndrome. X-rays can reveal abnormalities or damage in the joints and spine. These signs and symptoms vary widely among affected individuals. A chart review and updated investigations were performed to elucidate the presenting history and disease progression in the . One such family has been reported. Stickler Involved People, a partner of The Marfan Foundation, provides additional information for those affected by Stickler syndrome. Risk factors While Stickler syndrome can sometimes be diagnosed based on your child's medical history and a physical exam, additional tests are needed to determine the severity of the symptoms and help direct treatment decisions. This hereditary condition causes distinctive facial abnormalities. Collagen is a main component of the eye's cornea and sclera. In Stickler syndrome, the vitreous gel that fills the back of the eye is abnormal, and in healthy adults, the vitreous gel causes retinal detachment by pulling on the retina. GENERAL Diagnosed as having Stickler syndrome by a medical professional Yes 95% No 5% Data from the four respondents without a clinical diagnosis of Stickler syndrome has hearing loss in adults and children with stickler syndrome 35 11.8. hearing tests in children 36 11.9. hearing tests in adults 37 12. speech therapy within stickler syndrome 37 13. dental and orthodontic care 39 14. problems during adolescence 40 15. guidelines for management of the condition 41 16. . A chart review and updated investigations were performed to elucidate the presenting history and disease progression in the . Up to 80% of patients present a RD and 25% to 80% have sequential bilateral RD. The difference was that her eyes didn't fully straighten out by 3 months of age. Mitochondrial complex IV deficiency nuclear type 1 (MC4DN1) is an autosomal recessive metabolic disorder characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills between about 5 and 18 months of age after normal early development. It is also known as Stickler dysplasia. Arthritis often appears early in life and may cause joint pain or stiffness. Stickler syndrome (SS) is a dominantly inherited disorder of connective tissue associated with retinal detachment, myopia (short-sight), cleft palate, deafness, and arthropathy. His discoveries are proving important to today's genome research. Individuals with Stickler syndrome caused by mutations in the COL2A1 gene (Sticker syndrome type I, or STL1; 108300) almost always display a congenital vitreous abnormality consisting of a vestigial gel in the retrolental space, bounded by a highly folded membrane.In a study of 50 families presenting with the Stickler syndrome type I membranous . In Stickler syndrome, the vitreous gel that fills the back of the eye is abnormal, and in healthy adults, the vitreous gel causes retinal detachment by pulling on the retina. 3 PRS especially is known to predispose patients to perioperative airway and respiratory concerns. Connective tissue is found throughout the body and is made up of a protein called collagen. Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. The signs and symptoms of Stickler syndrome may include distinctive facial features, eye abnormalities, hearing loss, and symptoms affecting the joints.Facial features common to people who have Stickler syndrome may include being born with a cleft palate, having a small chin (micrognathia), and having a tongue that is placed further back in the mouth (glossoptosis). Stickler syndrome was first described in the medical literature in 1965 by Gunnar Stickler et al., who called the disorder hereditary progressive arthro-ophthalmopathy. Stickler syndrome, initially also known as hereditary arthro-ophthalmopathy, includes progressive osteoarthritis as an important manifestation, with an estimated 15% prevalence by age 20. 2011; 15:iii-xiv, 1-62. Affected individuals show hypotonia, failure to thrive, loss of the ability to sit or walk, poor . Children with Stickler syndrome have abnormal collagen, which is the fibrous protein that connects and supports the body's tissues.They commonly have problems with facial . The vitreous is sometimes seen to form 'veils', especially in the retrolenticular region but they may also float throughout the posterior chamber. No previous study has examined hip pain or abnormalities in a large series of patients with Stickler syndrome.The purpose of this study was to describe hip abnormalities and their correlation with age and chronic hip pain in a cohort of 51 patients followed at the . Stickler syndrome is a group of conditions that affect collagen, a protein found throughout the body that supports and connects skin, muscle, and bone. Clinical Trials Registry. Explore symptoms, inheritance, genetics of this condition. Stickler Syndrome, Type I, Predominantly Ocular. About Stickler Syndrome Support Group. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. The vitreous often appears optically empty as it liquefies and the fibrils degenerate. It can lead to problems with vision, hearing and movement. NSAIDs are more effective than paracetamol although carry more co-morbidity with long-term use and renal, cardiovascular and gastrointestinal co-morbidities should be evaluated carefully before committing to using such medication. Doctors usually diagnose Stickler syndrome in babies and children. Medical Genetics. hearing loss in adults and children with stickler syndrome 35 11.8. hearing tests in children 36 11.9. hearing tests in adults 37 12. speech therapy within stickler syndrome 37 13. dental and orthodontic care 39 14. problems during adolescence 40 15. guidelines for management of the condition 41 16. . Stickler syndrome, or hereditary arthroophthalmology, is a genetic disorder first described by Gunnar Stickler in 1965 and 1967. The pattern of inheritance is most commonly autosomal dominant, although a family showing autosomal recessive inheritance has been reported. 69 Stickler syndrome includes both autosomal dominant and recessive forms; one of which, Stickler syndrome type 4 (STL4), is a form of multiple epiphyseal . 4.9 with 30 ratings. Baby V - Stickler Syndrome. Etiology Types 1-4 Stickler syndrome are classically inherited in an autosomal dominant fashion, though a significant number of cases may be sporadic.. Stickler syndrome is a genetic condition that weakens the connective tissue—specifically collagen—throughout the body. For a general phenotypic description and a discussion of genetic heterogeneity of Stickler syndrome, see 108300. Health Technol Assess. The auditory phenotype in Stickler syndrome is inconsistently reported. Stickler syndrome is also known as hereditary progressive arthro . It was first studied and characterized by Gunnar B. Stickler in 1965. . Stickler syndrome. 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. The symptoms identified in adults are often different from those that may be observed in children. -Children and young adults loose and flexible -Less flexible with age -Arthritis often appears "early" causing joint pain and stiffness Stickler syndrome is a connective tissue disorder that may include ocular findings of myopia, cataract, and retinal detachment; hearing loss; midfacial underdevelopment and cleft palate; and mild spondylospiphyseal dysplasia and/or precocious arthritis. Other diseases associated with blue sclera . Stickler Syndrome Support Group aims to raise awareness of Stickler syndrome amongst the medical profession; promote the value of early diagnosis for adults and children with the condition to help preserve vision, particularly the prevention of blindness in children and adults. Blue sclera. 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