Stickler Syndrome

First described by Dr Gunnar B Stickler in 1965, Stickler syndrome is a connective tissue condition that results in a distinctive facial appearance, eye abnormalities, hearing loss and joint problems including hypermobility. It is caused by mutations of certain genes responsible for the production of collagen. Unlike Col3 and Col5 in EDS, or COL1 in OI, the genes affected in Stickler syndrome are COL2 (accounting for 75% of cases), COL9, and COL11. There are two COL11 genes that lead to Stickler syndrome: COL11A1 and COL11A2. One important difference between them is that the COL11A2 gene defect does not affect the eye.

The syndrome is estimated to be present in 1 per 10,000 of the general population. Like all the other Heritable Disorders of Connective Tissue (HDCT) there are a range of signs and symptoms, and individuals can be affected in different ways. Some people have no major signs and no problems; some have most or all of them and experience a range of problems from the subtle to the severe. Also like many of the HDCT, Stickler syndrome is most often inherited as an autosomal dominant condition. The exception is the COL9 variant that is inherited in a ‘recessive’ way.

Below are articles providing an overview of the condition, it's symtpoms, diagnosis and management.

To read more about Stickler syndrome please go to: stickler.org

If you would like the clinical references for the information used in these articles, please contact us via the Information Standards Enquiry from.

Article due to be reviewed: March 2018.

Stickler Syndrome: Diagnostic Criteria

The diagnostic criteria for stickler syndrome. Read more

Sticklers Syndrome: Signs and Symptoms

An overview of the signs and symptoms of stickler syndrome. Read more

Stickler Syndrome: Management

A short overview of the management of stickler syndrome. Read more

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