Disease Information for Stickler syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Broad flat nose/facies
Craniofacial Abnormalities/Congenital
Facies particular
Receding chin deformity
Uvula anomaly/deformity
Mental Deficiency Child
Arthralgias Polyarthralgias
Joint Pains
Snoring
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Small jaw Cleft palate Eye Joint anomalies
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Epiphysis Lesions/Site
Associated Diseases & Rule outs
Associated Disease & Complications
Arthritis
Blindness
Cataract
Cleft Lip
Cleft palate/deformity
Congenital eye disease/eye anomalies
Mandible hypoplasia/Retrognathia
Mental retardation
Micrognathia/congenital small chin
Myopia
Myopia, progressive/malignant
Osteoarthritis in Young Adults
Osteoarthritis, degenerative
Pierre Robin syndrome
Retina detachment
Retinal Degeneration/Dystrophy
Stickler syndrome
Deafness Acquired
Hereditary Deafness/Sensorineural
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Faces-cranio online database (ex)
CLASS/Systemic/no comment (category)
CLASS/Eyes/accessory (category)
CLASS/Vitreous disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 12q13.11-q13.2
Pathophysiology/Gene locus 1p21
Pathophysiology/Gene locus 6p21.3
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene locus chromosome 12
Pathophysiology/Gene locus Chromosome 6
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Autosomal dominant hereditary disease (ex).
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
AOM, arthro ophthalmopathia hereditaria, arthro ophthalmopathy, arthro ophthalmopathy (AO AOM), ARTHROOPHTHALMOPATHY HEREDITARY PROGRESSIVE, Hered progr arthro ophthalmop, Hereditary arthro ophthalmopathy, hereditary progressive arthro ophthalmopathy, Hereditary progressive arthro ophthalmopathy syndrome, Stickler dysplasia, Stickler syndrome, Stickler syndrome (disorder), STICKLER SYNDROME MEMBRANOUS VITREOUS TYPE, STICKLER SYNDROME TYPE I, STICKLER SYNDROME VITREOUS TYPE 1, Stickler's syndrome, STL1, Wagner Stickler syndrome, Synonym/Arthro-ophthalmopathy, Synonym/Epiphysial changes and high myopia, Synonym/Marshall Stickler variant, Synonym/Ophthalmoarthropathy, Synonym/Progressive arthro-ophthalmopathy, Synonym/Walden Stickler variant, Synonym/Weissenbacher-Zweymuller syndrome
Definition

Progressive myopia beginning in late childhood, vitreoretinal degeneration, retinal detachment causing blindness, cataracts, hearing loss, cleft palate, and spondyloepiphyseal dysplasia; The craniofacial features range from essentially normal face to dish facies with micrognathia, depressed bridge of the nose, long philtrum, and prominent eyes; Patients with Stickler syndrome often have the feature of Robin syndrome (brachygnathia, cleft palate, glossoptosis, and backward and upward displacement of the larynx); Some cases have mental retardation; The clinical manifestations are variable and may differ from one patient to another; Stickler syndrome shares many characteristics with the Marshall, Wagner, and Walden syndromes and is sometimes designated as the Marshall-Stickler, Wagner-Stickler, or Walden syndrome; The radiographic characteristics of the Stickler syndrome during infancy resembles those of the Weisssenbacher-Zweimuller syndrome

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External Links Related to Stickler syndrome
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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