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Description : Stickler syndrome, Forms, Causes, signs and symptoms, diagnosis, genetics, epidemology, Treatment.

Tags : Stickler syndrome, Forms, Causes, signs and symptoms, diagnosis, genetics, epidemology, Treatment.

Published on : Nov 09, 2021 | Views : 2198 | Downloads : 6

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STICKLER SYNDROME Author, group UROTHODY MOHAMMED FARHAN M1861
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STICKLER SYNDROME Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. Is a group of very rare genetic disorders affecting connective tissue, specifically collagen. Stickler syndrome is also known as hereditary progressive arthro-ophthalmodystrophy. Stickler syndrome is a subtype of collagenopathy.
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FORMS OF THE DISEASE Subdivisions of Stickler Syndrome Stickler syndrome type I COL2A1 gene (chr 12q13.11) (75% of Stickler cases) Stickler syndrome type II COL11A1 gene (chr 1p21) Stickler syndrome type IV COL9A1 gene (chr 6q13) (recessive variant) Stickler syndrome type V COL9A2 gene (chr 1p33) (recessive variant) Stickler syndrome type III (STL3), or 'nonocular Stickler syndrome,' has been reclassified as a form of otospondylomegaepiphyseal dysplasia (OSMEDA). Stickler syndrome type III is caused by mutations of the COL11A2 gene (chr 6p21.3.)
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FORMS OF THE DISEASE Types of Stickler syndrome, which are distinguished by their genetic causes and their patterns of signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. Type I has the highest risk of retinal detachment. Type II also includes eye abnormalities, but type III does not (and is often called non-ocular Stickler syndrome). Types II and III are more likely than type I to have significant hearing loss. Types IV, V, and VI are very rare
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CAUSE OF THE DISEASE Stickler syndrome is caused by mutations or pathogenic variants in one of six genes: COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, or COL9A3. These genes are all responsible for providing instructions to the body to produce collagen. Collagen is involved in providing length and structure to tissues in the body known as connective tissues. In Stickler syndrome, it causes the collagen in the body to not be made or processed properly. This causes the signs and symptoms associated with Stickler syndrome.
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SIGNS AND SYMPTOMS Stickler syndrome type I (STL1) is responsible for approximately 70% of reported cases and presents with a wide variety of symptoms affecting the eye, ear, facial appearance. A characteristic feature of stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. Increased pressure within the eye (ocular hypertension) which could lead to glaucoma and tearing or detachment of the light-sensitive retina of the eye (retinal detachment). The vitreous humour has a distinctive appearance in the types of stickler syndrome associated with the col2a1 and col11a1 genes.
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SIGNS AND SYMPTOMS Vertebrae abnormality, curvature of the spine, scoliosis, joint pain, and double jointedness. Flat cheeks, flat nasal bridge, small upper jaw, pronounced upper lip groove, small lower jaw, and palate abnormalities. Mild to severe hearing loss. The joints of affected children and young adults may be very flexible (hypermobile). Arthritis often appears at an early age and worsens as a person gets older. Stickler syndrome is thought to be associated with an increased incidence of mitral valve prolapse of the heart.
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DIAGNOSIS OF DISEASE Syndrome should be suspected in individuals with a combination of the following findings: Cleft palate (open cleft, submucous cleft, or bifid uvula) Characteristic facial features including malar hypoplasia, broad or flat nasal bridge, and micro/retrognathia Vitreous changes or retinal abnormalities (lattice degeneration, retinal hole, retinal detachment, or retinal tear) High-frequency sensorineural hearing loss Skeletal findings including - scoliosis, spondylolisthesis. Osteoarthritis before age 40 The diagnosis of Stickler syndrome is established in a proband who meets the proposed clinical diagnostic criteria and/or has a heterozygous pathogenic variant in COL2A1, COL11A1, or COL11A2 or biallelic pathogenic variants in COL9A1, COL9A2, or COL9A3.
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GENETICS Mode of Inheritance: Stickler syndrome caused by heterozygous pathogenic variants in COL2A1, COL11A1, or COL11A2 is inherited in an autosomal dominant manner. Stickler syndrome caused by biallelic pathogenic variants in COL9A1, COL9A2, or COL9A3 is inherited in an autosomal recessive manner.
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EPIDEMIOLOGY An approximate incidence of stickler syndrome among newborns can be estimated from data regarding the incidence of robin sequence in newborns (1:10,000-1:14,000) And the percent of these newborns who subsequently develop signs or symptoms of stickler syndrome (35%). These data suggest that the incidence of stickler syndrome among neonates is approximately 1:7,500-1:9,000.
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TREATMENT Craniofacial- Infants with Robin sequence need immediate attention from specialists in otolaryngology and pediatric critical care, as they may require tracheostomy to ensure a competent airway. Ophthalmologic- Refractive errors should be corrected with spectacles. Audiologic- Otitis media may be a recurrent problem secondary to palatal abnormalities. Myringotomy tubes are often required. Joints- Treatment of arthropathy is symptomatic and includes using over-the-counter anti-inflammatory medications before and after physical activity.
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TREATMENT Orthodonture may be necessary to correct dental malalignment. Patients with sensorineural or mixed hearing loss may require hearing aids. Various anti-inflammatory medications and sometimes prescription pain medications may be used to treat joint disease in individuals with Stickler syndrome. In mild cases, short-term relief may be provided from cortisone injections. Special education and other services may be helpful for children with learning disabilities due to hearing or vision problems. Affected individuals should be advised to avoid activities that may lead to traumatic retinal detachment (e.g., contact sports).
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BIBLIOGRAPHY Stickler syndrome – Wikipedia Stickler syndrome - Symptoms and causes - Mayo Clinic Stickler Syndrome - GeneReviews® - NCBI Bookshelf (nih.gov) OMIM Entry - # 108300 - STICKLER SYNDROME, TYPE I; STL1 Stickler Syndrome - NORD (National Organization for Rare Disorders) (rarediseases.org) Stickler syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov) Stickler syndrome: MedlinePlus Genetics stickler syndrome related genes - GeneCards Search Results COL2A1 Gene - GeneCards | CO2A1 Protein | CO2A1 Antibody