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  • What is Stickler Syndrome?
  • Why Stickler Syndrome?
  • Who is affected?
  • How does it affect a sufferer?
  • What are the symptoms?
  • Management of the condition
  • What is Stickler Syndrome?

    It is a genetic progressive condition, which can affect both sexes and is normally passed on from parent to child. It affects the body's collagen (connective tissue) which is the most plentiful protein in the body - about one third of all our protein is made up of collagen. Collagen forms a major part of connective tissue, which can be described as the supportive tissue of the organs of the body. Some connective tissue acts like a glue or binding, in other areas it acts like scaffolding, and can also allow for the elastic stretching and tightening, especially in the muscles. Collagen is also an important part of the cartilage which covers the bone ends of the joints. In the eye it is found in the sclera, cornea and vitreous humour.

    Several genes which control and direct collagen synthesis (the building up of complex substances by the joining and interaction of simpler materials) may cause Stickler syndrome.

    Two other genes are now also known to cause some of the features of Stickler syndrome.

    In a fourth group the genetic cause is yet to be determined.

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    Why Stickler Syndrome?

    Stickler syndrome is named after Dr Gunnar B Stickler. In 1960 a twelve year-old boy was examined at the Mayo Foundation in Minnesota, USA. The boy had bony enlargements of several joints and was extremely short sighted. His mother was totally blind. Dr Stickler discovered that there were other members of the family with similar symptoms, the first family member having been seen by Dr Charles Mayo in 1887. This prompted Dr Stickler to study the family. With colleagues he worked to define the condition, the results being published in June 1965. Dr Stickler tentatively named the condition HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATHY known world-wide as Stickler syndrome.

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    Who is affected?

    One in 10,000 persons may be affected by Stickler syndrome. Some medical professionals believe that as many as 3 in 10,000 persons are affected, but further research is needed to confirm this. As an inherited condition, Stickler syndrome is normally passed from parent to child. There is a 50% chance of children being affected in this way although there are some recorded cases where it has occurred for the first time in a child.

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    How does it affect a sufferer?

    The symptoms and severity of Stickler syndrome vary from patient to patient, even within a family, and can be difficult to diagnose. There is a range of treatments and support available. With this help it is possible to learn to live within the limitations of the condition.

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    What are the symptoms?


    Short-sight (myopia)
    High risk of retinal detachments, which may affect both eyes.

    Bones and Joints

    Stiff joints and over-flexible joints
    Early joint disease leading to osteoarthritis in later life


    Cleft palate, submucous or high arched palate and/or bifid uvula

    Micrognathia – where the lower jaw is shorter than the other resulting in poor contact between the chewing surfaces of the upper and lower teeth. These symptoms are similar to those found in Pierre Robin sequence

    Facial Characteristics

    A flat face with a small nose and little or no nasal bridge. Appearance tends to improve with age


    Possible hearing loss
    Glue ear in childhood caused by cleft palate

    Other symptoms

    These may include curvature of the spine (scoliosis), mitral valve prolapse and, because of sight and hearing problems, some learning difficulties may be experienced

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    Management of the condition

    Once Stickler syndrome is diagnosed, a co-ordinated multidisciplinary approach is desirable. This should include:

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