Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. More detailed information about the symptoms, causes, and treatments of Stickler Syndrome is available below.
See full list of 44 symptoms of Stickler Syndrome
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Read more about causes of Stickler Syndrome.
See full list of 14 occasional symptoms of Stickler Syndrome
Commonly undiagnosed diseases in related medical categories:
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Read more about Misdiagnosis and Stickler Syndrome
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The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Stickler Syndrome include:
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Types of Stickler Syndrome
Read about other experiences, ask a question about Stickler Syndrome, or answer someone else's question, on our message boards:
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. - (Source - Diseases Database)
Stickler Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Stickler Syndrome, or a subtype of Stickler Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Stickler Syndrome as a "rare disease".
Source - Orphanet
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