SINDROME DE STICKLER PDF

NCBI Bookshelf. Variable phenotypic expression of Stickler syndrome occurs both within and among families; interfamilial variability is in part explained by locus and allelic heterogeneity. The diagnosis of Stickler syndrome is clinically based. At present, no consensus minimal clinical diagnostic criteria exist. Treatment of manifestations: Management in a comprehensive craniofacial clinic when possible; tracheostomy as needed in infants with Robin sequence; mandibular advancement procedure to correct malocclusion for those with persistent micrognathia; correction of refractive errors with spectacles; standard treatment of retinal detachment and sensorineural and conductive hearing loss; symptomatic treatment for arthropathy.

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Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood. Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped-out facial appearance and a receding chin.

They are often born with an opening in the roof of the mouth cleft palate. While there is no cure for Stickler syndrome, treatments can help control symptoms and prevent complications.

In some cases, surgery may be needed to correct some of the physical abnormalities associated with Stickler syndrome. The signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — can vary widely from person to person, even within the same family.

Regular follow-up visits, as well as yearly visits to doctors specializing in eye disorders, are crucial to monitor any progression of symptoms. Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 and then yearly thereafter.

Stickler syndrome is caused by mutations in certain genes involved in the formation of collagen — one of the building blocks of many types of connective tissues. The type of collagen most commonly affected is that used to produce joint cartilage and the jellylike material vitreous found within the eyes. Your child is more likely to be born with Stickler syndrome if either you or your partner has the disorder. Mayo Clinic does not endorse companies or products.

Advertising revenue supports our not-for-profit mission. This content does not have an English version. This content does not have an Arabic version. Overview Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems.

Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Kliegman RM, et al. Disorders involving cartilage matrix problems. In: Nelson Textbook of Pediatrics.

Elsevier; Accessed July 11, Petty RE, et al. Primary disorders of connective tissue. In: Textbook of Pediatric Rheumatology.

Herring JA. Orthopaedic-related syndromes. In: Tachdjian's Pediatric Orthopaedics. Saunders Elsevier; Buchanan EP, et al. Syndromes with craniofacial abnormalities. Pagon RA, et al. Stickler syndrome. In: GeneReviews. University of Washington, Seattle; Gleason CA, et al.

Craniofacial malformations. In: Avery's Diseases of the Newborn. Yanoff M, et al. Hereditary vitreoretinopathies. In: Ophthalmology. Daroff RB, et al. Disorders of bones, joints, ligaments and meninges. In: Bradley's Neurology in Clinical Practice.

Scholes MA, et al. Pediatric hearing loss. In: ENT Secrets. Mayo Clinic Marketplace Check out these best-sellers and special offers on books and newsletters from Mayo Clinic.

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Stickler syndrome

Alternative titles; symbols. Stickler syndrome is a clinically variable and genetically heterogeneous disorder characterized by ocular, auditory, skeletal, and orofacial abnormalities. Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts. Additional findings may include midline clefting cleft palate or bifid uvula , Pierre Robin sequence, flat midface, sensorineural or conductive hearing loss, mild spondyloepiphyseal dysplasia, and early-onset osteoarthritis summary by Baker et al. See for a form of Stickler syndrome type I that is solely or predominantly ocular and is also caused by mutation in the COL2A1 gene. These forms of Stickler syndrome are autosomal dominant. Stickler et al.

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What Is Stickler Syndrome?

Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood. Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped-out facial appearance and a receding chin. They are often born with an opening in the roof of the mouth cleft palate. While there is no cure for Stickler syndrome, treatments can help control symptoms and prevent complications. In some cases, surgery may be needed to correct some of the physical abnormalities associated with Stickler syndrome.

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