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- Disease Information
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Disease Processes ▼
- Auto Immune
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Major Organs-Systems ▼
- Systemic
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Disease Information for Stickler syndrome
- 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
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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
- 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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