![SUFU – a newly described gene linked to Gorlin Syndrome.]()
by Margaret | 26 Feb 2019 | About Gorlin Syndrome
Most people with Gorlin Syndrome have mutations (genetic spelling mistakes) in PTCH1Some people with Gorlin Syndrome have a mutation in the SUFU genePeople with the SUFU mutation frequently get a brain tumour called medulloblastomaPeople with the SUFU...
by Margaret | 25 Feb 2019 | About Gorlin Syndrome
It’s official: Gorlin Syndrome is the name of our condition. It’s not Gorlin’s syndrome, Gorlin-Goltz syndrome, NBCCS, BCNS – it’s Gorlin Syndrome! WHAT’S HAPPENED? The World Health Organisation runs the International Classification of Diseases (ICD). Every 5...
by Margaret | 29 Mar 2018 | About Gorlin Syndrome
90% of individuals with the syndrome will develop basal cell carcinomas (BCC) at some stage in their life. BCCs is the most common form of cancer in the general population. BCCs in members of the general population are associated with excess exposure to the sun, and...
by Margaret | 29 Mar 2018 | About Gorlin Syndrome
The Gorlin syndrome gene has an effect on the development of the skeletal system. This does not progress throughout life and usually causes no ill effects as all. Principally affected are the height, the shape of the ribs, the shape of the bones in the vertebral...
by Margaret | 29 Mar 2018 | About Gorlin Syndrome
There are many features which may occur in Gorlin Syndrome, although most are rare. Some of the features are listed below. Ophthalmic problems – in one study, ophthalmic problems affected 26% of people with the syndrome. They include squint (convergent...
by Margaret | 29 Mar 2018 | About Gorlin Syndrome
Gorlin syndrome or Nevoid Basal Cell Carcinoma syndrome is a medical condition affecting many body systems and is caused by a fault in just one of the thousands of genes which humans possess. The condition is characterised by the development of multiple jaw...
