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Gorlin Syndrome Group

Supporting patients, their families and carers
 
Registered Charity No: 1096361
Supporting patients, their families, friends and carers affected by Gorlin Syndrome
Home      About the Syndrome


Genetics picture
 
Gorlin 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.
 

 

Gorlin Syndrome

The Syndrome has been given several names, i.e.(Nevoid Basal Cell Carcinoma Syndrome (NBCCS), or Basal Cell Nevus Syndrome (BCNS) because patients with particular problems were described by the specialist looking after them and the suggested name of the condition then mirrored the specialty of the doctor writing the report.

Professor Robert Gorlin suggested that it might best be called the nevoid basal cell carcinoma syndrome, although 10% of adults do not develop basal cell carcinomas (BCCs).  Rather than focus on one feature of the condition, it may be better to use the title of Gorlin syndrome, in recognition of Professor Robert Gorlin's contributions, especially as parents and patients prefer not to have a name which contains the word 'carcinoma'.


The condition is characterised by the development of multiple jaw cysts (keratocysts) and/or basal cell carcinomas (BCCs). Most people have pits (small depressions) on the palms of the hands and soles of the feet and skeletal anomalies such as bifid ribs (ribs that are divided at the end) or wedge-shaped vertebrae. Other features occur in the syndrome, although most are rare but these can include ophthalmic problems, cleft lip and palate, ovarian fibromas (fibroma is a benign tumour), cardiac fibromas which can affect heart function and medulloblastoma (type of brain tumour).

Other features occur in the syndrome, although most are rare but these can include ophthalmic problems, cleft lip and palate, ovarian fibromas (fibroma is a benign tumour), cardiac fibromas which can affect heart function and medulloblastoma (type of brain tumour). 


 


Statistics
North West England
A study in the North West of England indicated approximately 1 in 56,000 are affected by the condition (Evans, D.G.R. et al. Journal of Medical Genetics 1992).




The Syndrome main features
Recurrent jaw cysts
13% of people develop a jaw cyst by the age of 10 years and 51% by the age of 20 years. The majority occur after the seventh year. The peak incidence is in the third decade.

The may be remarkably few symptoms until cysts reach a large size, especially when the ascending ramus is involved. Presentation can be with swelling and/or pain of the jaw, pus discharging into the oral cavity or displaces, impacted or loose teeth.

Misshapen teeth, missing teeth and a susceptibility to caries are more common in patients than in unaffected relatives.


Other Features
 
There are nearly 100 features of the syndrome.  Check out the following pages for further detail.
 
Skin Problems
Skeletal
Features
 
 

 



 
 
Written and produced by Professor P A Farndon, Clinical Geneticist at the National Genetics Education and Development Centre UK, Jim Costello (deceased) & Margaret Costello, unless otherwise stated.