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Registered Charity No: 1096361 |
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Supporting patients, their families, friends and carers affected by Gorlin Syndrome
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| Diagnostic Criteria |
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Diagnostic criteria based on the most
frequent and/or specific features of the syndrome are given in Journal of
Medical Genetics, Volume 30, 1993, pages 460-464. and itemised below:. | |
These criteria were based on examination
of family cases in England, a land not noted for excessive sunlight. The numbers
of BCCs acceptable as a major criterion will vary according to the climate, and
will need adaptation for countries such as Australia.
2 MAJOR or 1 MAJOR and 2 MINOR
criteria
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Major Criteria
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- (>2) basal cell carcinoma or one
under 30 years, or 10 basal cell naevi
- any odotegenic keratocyst (jaw cyst)
or polyostotic bone cyst
- palmar or planta pits (3 or more)
- ectopic calcification or early
(<20yrs) falx calcification
- family history of Gorlin Syndrome (NBCCS)
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Minor Criteria
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- congenital skeletal anomoly: bifid,
fused, splayed or missing rib or bifid, wedged or fused vertebra
- cardiac and/or ovarian fibroma
- medullotblastoma
- lymphomesenteric cysts
- congenital malformation: cleft lip
and/or palate, polydactyly, eye anomoly (cataract, colobma, microphtalmia,
nystagmus)
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It is worth noting that some of the symptoms listed under minor criteria are rare. See a Consultant if you have worries or concerns about any aspect of the condition. You can also Contact Us for further information or advice.
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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. |
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