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This fact sheet contains general information about Gorlin syndrome. Each person should be referred to a genetic service for further information and advice.

Key Points

  • Gorlin syndrome (also known as nevoid basal cell carcinoma syndrome) is caused by faults (mutations) in the PTCH1 gene.
  • People with Gorlin syndrome have an increased chance of developing skin cancer and childhood brain cancer.
  • People with Gorlin syndrome have an increased chance of developing jaw cysts and skeletal abnormalities.
  • Family members (including infants and children) can be referred to a genetic service where experts can provide information, advice and support about their chance of developing cancer and the option of genetic testing.  

This cancer genetics fact sheet is a guide only and cannot cover every possible situation. The information provided is not intended to replace discussion with a health professional, and should not be interpreted as medical advice. Use of this document is subject to eviQ's disclaimer available at  www.eviQ.org.au  

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https://www.eviq.org.au/p/3435

21 Jul 2018