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 strabismus), nystagmus, cataracts and underdevelopment of the eye (microphthalmia).
Cleft lip and palate – about 5% of people with the syndrome have cleft lip and palate.
Ovarian fibromas – calcified ovarian fibromas have been reported in about 20% of females with the syndrome and may be mistaken for calcified uterine fibroids. They may cause torsion of the ovary (twisting which can result in blocking of blood supply) but are not thought to affect fertility. They can become large and calcified, however, malignant traqnsformation is rare and has only been reported after radiotherapy.
Medulloblastoma – about 5% of individuals with the syndrome develop the childhood brain malignancy medulloblastoma. Peak incidence in Gorlin syndrome is in the first two years of life. Treatments are available and there is a favourable prognosis compared to other medulloblastoma patients.
The risk of other malignant tumours is not clearly increased.
Ref: Neviod Basal Cell Carcinoma Syndrome. Synonyms: Basal Cell Nevus syndrome (BCNS), Gorlin syndrome, NBCCS. D Gareth Evans, MD, FRCP and Peter A Farndon, MD, FRCP Gene Reviews 20301330 Mar 2013
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Reviewed and verified by Medical Advisers in conjunction with the Gorlin Syndrome Group 29/03/2018. Next Review January 2019.