Learn indepth information on stickler syndrome, its causes, symptoms, diagnosis, complications, treatment, prevention, and prognosis. Pdf clinical and molecular genetics of stickler syndrome. A dominantly inherited syndrome of hyaloideoretinal degeneration, cleft palate and maxillary hypoplasia cervenka syndrome. Stickler involved people genetic and rare diseases. It is possible that few of these cases were in fact cases of stickler syndrome associated with congenital glaucoma, which may also be a reason for the association not being well recognised. Stickler syndrome diagnosis and treatment american. Prevalence rates have been estimated at per 10,000 births and at 1 per 7,500 births. Stickler syndrome basic information for patients and families stickler syndrome is a genetic disorder affecting collagen throughout the body. Depression can be art of individuals with sticklers syndrome. Stickler syndrome, also called hereditary progressive arthro ophthalmopathy, is an autosomal dominant connective tissue disorder primarily affecting the ocular. Stickler syndrome, ocularonly variants and a key diagnostic. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose.
Stickler syndrome simple english wikipedia, the free. Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. Mar 01, 2018 stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The hip in stickler syndrome stickler involved people.
Protrusio acetabulislipped epiphysisstickler syndrome. Stickler syndrome, is sometimes called sticklers dysplasia hereditary progrerssive arthroophalmodystrophy. It affects the way a person produces collagen when someone has sticklers they may have problems with their joints, eyes, ears, heart, and in some rare cases their skin. Overall, the estimated prevalence of stickler syndrome is about 1 in 10,000 persons. Sticklers syndrome is an inherited connective tissue disorder resulting from a mutation, usually autosomaldominant, in one of the 4 genes that encode collagen 2, 9 and 11 synthesis. Collagen is a primary part of connective tissue like bone, skin and cartilage. Stickler syndrome is a disorder of the connective tissue, the tissue that supports or surrounds organs and other types of tissue.
Sep 16, 2011 the first report detailing hereditary arthroophthalmopathy, or stickler syndrome as it quickly became known, was in 1965, 1 with a supplementary report 2 years later. Orofacial abnormalities 2 points maximum cleft palate. As osteoarthritis in stickler syndrome is more frequently seen in weightbearing joints like the hips or knee, this, coupled to the other skeletal features of a pectus carinatum and scoliosis and the myopia were compatible with a diagnosis of stickler syndrome 6 rose ps, ahn nu, levy hp, et al. These criteria demonstrate 100% sensitivity when applied to type i stickler syndrome patients with known col2a1 mutations, 98% sensitivity when applied to clinically affected stickler patients, and 86% specificity when applied to patients unaffected based on clinical andor molecular analysis. The condition is characterized by facial abnormalities, ocular problems, hearing loss, and joint problems. It is termed stickler syndrome, type iii and symbolized stl3. Nov 15, 2019 stickler syndrome is diagnosed by a physical examination and medical history. A complete eye exam by an ophthalmologist will detect the problems associated with the syndrome. A characteristic feature of stickler syndrome is a somewhat flattened facial appearance. Stickler syndrome basic information for patients and families. Sticklers syndrome is an autosomal dominant connective tissue disorder also known as hereditary progressive arthroophthalmopathy.
Pdf the diagnosis and consequences of stickler syndrome. The disorder hereditary arthroophthalmopathy, or stickler syndrome is now known to be caused by. Stickler syndrome affects males as well as females. Genetic testing can be used to confirm the diagnosis. Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. Stickler s syndrome is an inherited connective tissue disorder resulting from a mutation, usually autosomaldominant, in one of the 4 genes that encode collagen 2, 9 and 11 synthesis. Stickler syndrome hereditary arthroophthalmopathy is a dominantly inherited connective tissue disorder with ocular, orofacial, auditory and skeletal manifestations. Stickler syndrome nord national organization for rare. Marshall stickler, wagner stickler hereditary arthroophthalmopathy first characterised by stickler in 1965, stickler syndrome is a progressive hereditary arthroophthalmopathy. Stickler syndrome is also referred to as hereditary arthroophthalmodystro. Symptoms children with stickler syndrome may have difficulty breathing in infancy due to tonguebased. Stickler syndrome can be diagnosed when a doctor observes many symptoms consistent with the syndrome.
A third form of stickler syndrome is caused by mutation in the col11a2 gene on chromosome 6 in region 6p21. Stickler syndrome core ngs panel connective tissue gene. Whilst type 1 stickler syndrome pedigrees have a particularly high risk of blindness through giant retinal tear and retinal detachment, annunen et al suggest that patients with col11a1 mutations are at a low risk of retinal detachment and have a higher incidence of midfacial hypoplasia. It is alternatively known as vitreous type 2 stickler syndrome. Clinical features of type 2 stickler syndrome journal of. One realize it often is a chemical imbalance in the brain and two, be active and giving to others in volunteering or time to combat being sedentary and looking too inward. Children who have stickler syndrome often have distinctive facial features prominent eyes, a small nose with a scoopedout facial appearance and a receding chin. Stickler syndrome associated with congenital glaucoma. Stickler syndrome may be the most common tissue disorder in the united states. Stickler syndrome refers to a group of disorders primarily affecting connective tissue. It is a rare medical condition discovered by gunnar b. Enable javascript to view the expandcollapse boxes. The clinical features of patients with type 2 stickler syndrome with confirmed mutations in the gene encoding the.
This appearance results from underdeveloped bones in the middle of the face. For a general phenotypic description and a discussion of genetic heterogeneity of stickler syndrome, see 108300. The syndrome may include a flattened facial appearance due to underdeveloped bones in the face, as well as problems with vision often. Six pedigrees, all exhibiting the beaded or type 2 vitreous phenotype, were identified. They are often born with an opening in the roof of the mouth cleft palate. Welcome to the web site of stickler involved people sip, the u. Stickler syndrome is a connective tissue disorder that can include ocular findings of myopia, cataract, and retinal detachment. Pdf the objective was to study the expressivity of stickler syndrome in affected children and adults in the uk and to highlight issues for. Links to pubmed are also available for selected references. Stickler syndrome is a group of genetic disorders that a. To define variations in the clinical manifestations of stickler syndrome, stickler et al. Stickler syndrome diagnosis and treatment american academy. The first report detailing hereditary arthroophthalmopathy, or stickler syndrome as it quickly became known, was in 1965, 1 with a supplementary report 2 years later.
Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and. Genetic and rare diseases information center gard po box 8126, gaithersburg, md 208988126 tollfree. Stickler syndrome is a genetic disorder affecting collagen throughout the body. Stickler syndrome hereditary progressive arthroophthalmodystrophy is a group of very rare genetic disorders affecting connective tissue, specifically collagen.
Symptoms children with stickler syndrome may have difficulty breathing in infancy due to tonguebased obstruction secondary to a cleft palate and small lower jaw. While there is no cure for stickler syndrome, treatments can help control symptoms and prevent. It is termed stickler syndrome, type ii and symbolized stl2. Stickler syndrome is an abnormal condition that causes severe problems in various parts of the body such as eyes, ears and joints. Sep 17, 2019 stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Depression can be art of individuals with stickler s syndrome. Stickler syndrome may be the most common tissue disorder in the united states, possibly affecting 1 in 10,000 persons. Full text full text is available as a scanned copy of the original print version. People with stickler syndrome have the following characteristics. Pdf stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. I was just curious because i would enjoy having a chance to participate in something even if it. The symptoms of stickler syndrome may vary but include nearsightedness, retinal detachment, underdevelopment of the middle of the face, and the development of arthritis at a young age. Dec 21, 2018 it is termed stickler syndrome, type ii and symbolized stl2.
Stickler syndrome hereditary progressive arthroophthalmopathy is a connective tissue disorder, a genetic malfunction in the tissue that connects bones, eyes, and ears. Stickler syndrome is an autosomal dominant genetic disorder which means that affected individuals have a 50 percent chance of passing along the syndrome. Pathology several gene mutations have been idntified dependent on specific sub types which include. This means it can occur equally in males or females. Stickler syndrome is characterized by distinctive facial abnormalities, ocular problems, hearing loss, and joint and skeletal problems. For language access assistance, contact the ncats public information officer. What other names do people use for stickler syndrome. Presenting as a syndrome of cleft palate, myopia and blindness inherited as a dominant trait.
Otospondylomegaepiphyseal dysplasia, autosomal dominant. Where i live ive never heard of anything being available. The full text of this article is available in pdf format. The abnormal appearance is visible during an eye exam. A complete eye exam detects the problems associated with the syndrome sometimes, the clear gel that fills the eyeball has an abnormal appearance. Stickler syndrome genetic and rare diseases information. Stickler syndrome childrens hospital of philadelphia. The syndrome may include a flattened facial appearance due to underdeveloped bones in the face, as well as problems with vision often nearsightedness, hearing, and skeletal development. Stickler syndrome is an autosomal dominant genetic condition.
Have you ever been to or heard of support groups, gatherings, or charity events related to stickler syndrome. Stickler syndrome is a subtype of collagenopathy, types ii and xi. Osteoarthritis at young age, a diagnostic challenge. Marshallstickler, wagnerstickler hereditary arthroophthalmopathy first characterised by stickler in 1965, stickler syndrome is a progressive hereditary arthroophthalmopathy.
Stickler syndrome core ngs panel connective tissue gene tests. Most investigators believe that the disorder is highly underdiagnosed, making it difficult to determine the true prevalence of stickler syndrome in the general population. This is caused by underdeveloped bones in the middle of the face, including the. Of 316 usable replies, 95% of persons had eye problems retinal detachment in 60%, myopia in 90%, and blindness in 4%. Ces mutations entrainent des alterations visuelles, auditives, orofaciales et articulaires. It is also called hereditary progressive arthroophthalmopathy and is usually diagnosed during infancy. It is thought to have a prevalence of 1 in 7,50010,000, making it the. The stickler syndrome was first described in 1965 by gunnar stickler. Get a printable copy pdf file of the complete article 1. If you have problems viewing pdf files, download the latest version of adobe reader. An ophthalmologist diagnoses stickler syndrome with a physical examination and medical history. Also known as hereditary progressive arthroophthalmopathy, stickler syndrome is usually diagnosed during infancy or childhood. The condition is characterized by facial abnormalities, ocular problems, hearing. These signs and symptoms vary widely among affected individuals.
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