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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
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Features of Gorlin Syndrome
The condition is characterised by the development of multiple jaw cysts (keratocysts) and/or basal cell carcinomas (BCCs). Most individuals have pits (small depressions on the palms of the hands and soles of the feet. 
 
The Gorlin Syndrome gene also has an effect on the development of the skeletal system.  Height, shape of the ribs and bones, and the size of the skull can all be affected. 
 



Other features of the condition
There are many features which may occur in Gorlin syndrome, although most are rare.

Opthalmic problems - in one study, these affected 26% of people with the Syndrome. They include squint (convergent strabismus), nystagmus, cataracts and underdevelopment of the eye (microphthalmia). .

Ovarian fibromas - calcified ovarian fibromas have been reported in 35% - 50% of women with the syndrome and may be mistaken for calcified uterine fibroids. They do not seem to reduce fertility but may undergo torsion (twist). There is no evidence to suggest that they should be removed prophylactically.

Medulloblastoma - about 5% of individuals with the syndrome develop the childhood brain malignancy medulloblastoma. Peak incidence of medulloblastoma in Gorlin Syndrome is about two years of age compared to seven years. Treatments are available and there is a favourable prognosis.

Children presenting with medulloblastoma need to be assessed for Gorlin Syndrome, particularly if they are under 5 years of age. As well as examining the child, a medical history and examination of the parents is advisable.



More information

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. 
 
Misshapen teeth and / or  missing teeth and a susceptability to caries are more common in patients than in unaffected relatives.
 

Cleft lip and palate
About 5% of people with the syndrome have cleft lip and palate.





Cardiac fibroma
(a beniign tumour)
 
A cardiac fibroma can affect heart function. However, they are only seen in extremely rare cases.
 

Contact A Geneticist or Doctor
 
to ascertain if any symptoms being experienced are related to Gorlin Syndrome.
 

 






 



 


 
 
 
 
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.