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!
The World Health Organisation runs the International Classification of Diseases (ICD). Every 5 years ICD issues an official list of disease names and definitions. ICD 11 is going live later in 2019 and it’ll be another 5 years before ICD12 comes out in 2024.
For the first time, ICD has recognised Gorlin Syndrome as a disease and linked it into the ICD system. All the other disease names should no longer be used.
WHAT DOES MEAN FOR US?
ICD chose the name Gorlin Syndrome for two reasons. First of all, it’s easier to remember than some of the other names. Secondly, some of the other names (for example BCNS) only refer to skin, suggesting that having Gorlin Syndrome doesn’t affect other parts of the body.
WHAT ELSE DOES THAT MEAN?
It should help improve the way health services are planned. For example, if you asked the NHS in London how many people in England had Gorlin Syndrome, it probably couldn’t say just now. This is because hospitals and doctors across the country may use different names for the same thing. Now everyone should be using the same name and ICD code. In a couple of years it should, for the first time, be able to say how many people have been diagnosed with Gorlin Syndrome in any given area. Trying to compare accurate figures about the Gorlin Syndrome across countries has been even trickier, up to now.
DOES ANYTHING ELSE NEED DOING?
Yes – the entry on the ICD system (which you can see here) does not yet describe all the different ways people with Gorlin Syndrome can be affected. It also needs to be linked to the two different gene mutations, PTCH1 and SUFU, which cause slightly different types of Gorlin Syndrome. ICD11 is a great start and we now have 5 years to improve this achievement.