NORD gratefully acknowledges Paula C. Goldenberg, MD, MSW, MSCE, Director of the Stickler Syndrome Clinic at the Massachusetts General Hospital for Children, for assistance in the preparation of this report.
Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, can affect multiple organ systems. The specific symptoms present in Stickler syndrome often vary greatly from one individual to another. Affected individuals may not have all of the symptoms .The eyes, ears, skeleton and joints are most often affected. Affected individuals may also have distinctive facial features and palate abnormalities.
One of the first signs in Stickler syndrome is nearsightedness (myopia), in which objects close by are seen clearly but objects that are far away appear blurry. Myopia may vary from mild to severe in Stickler syndrome, but generally is not progressive (does not get worse). Myopia may be detectable shortly after birth, but the onset varies and may not develop until adolescence or even adulthood in some cases.
Stickler syndrome is characterized by the following clinical features: vitreoretinal degeneration, myopia, cataracts, retinal holes and detachments, sensorineural hearing loss, a characteristic facial appearance with mid-facial flatness, small chin, long upper lip (philtrum); palatal abnormalities, including cleft palate, bifid uvula or high arched palate; musculoskeletal problems including loose joints, scoliosis, chest deformities, a hip disorder of childhood (Legg-Calve-Perthe’s disease); early onset degenerative osteoarthritis (onset before age 40 years by X-ray); and mitral valve prolapse. An affected person does not need to have all of these features. In fact, the clinical picture is typically variable even among affected people in the same family.
Four distinct forms of Stickler syndrome have been identified in the medical literature based on the location of the mutated gene and inheritance pattern and at least one other form exists with an as yet unknown mutation location.
Stickler syndrome was first described in the medical literature in 1965 by Gunnar Stickler et al., who called the disorder hereditary progressive arthro-ophthalmopathy. Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is the material between cells of the body that gives the tissue form and strength, is found all over the body. Connective tissue is made up of a protein known as collagen of which there are several different varieties found in the body. Stickler syndrome often affects the connective tissue of the eye, especially in the interior of the eyeball (vitreous humor), the specialized tissue that serves as a buffer or cushion for bones at joints (cartilage) and the ends of the bones that make up the joints of the body (epiphysis).
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