What gene causes Gorlin syndrome?
Gorlin syndrome is caused by a mutation (change) in the PTCH1 gene. Also called basal cell nevus syndrome, BCNS, NBCCS, and nevoid basal cell carcinoma syndrome.
How do I know if I have Gorlin syndrome?
Minor criteria (symptoms) of Gorlin syndrome:
Large head size and protruding forehead. Cleft lip or palate, extra fingers or toes. Abnormally shaped ribs or bones in the spine. Eye problems such as cataracts, small eyes, or tumors in the iris.
Is there a test for Gorlin syndrome?
To diagnose Gorlin syndrome, your provider asks about your symptoms and performs a physical exam. Your healthcare provider may also give you a blood test that looks for specific gene mutations. Some imaging tests check for symptoms of Gorlin syndrome, such as jaw cysts or skeletal problems.
How is Gorlin syndrome inherited?
Inheritance. Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, an affected person inherits the mutation from one affected parent .
Is there a cure for Gorlin syndrome?
There is no cure for Gorlin syndrome but there are treatments. Currently, there is no treatment or cure for Gorlin syndrome itself. Rather, treatment for Gorlin syndrome centers on the prevention, management and removal of tumors and cysts caused by the disease.
Is Gorlin syndrome life threatening?
This gene suppresses tumor growth. Gorlin syndrome causes a wide range of symptoms, including basal cell carcinomas and benign tumors in the heart, brain, and ovaries. It’s not a fatal condition but does require lifelong monitoring and care.
How many people in the world have Gorlin syndrome?
One in 31,000 people is estimated to have this condition, according to the U.S. National Library of Medicine (NLM). While basal cell carcinoma is the most common type of skin cancer in general, fewer than 1 percent of these cancers are due to Gorlin syndrome.
What does Gorlin mean?
Definition of gorlin
1 dialectal, British : an unfledged bird. 2 dialectal, British : a callow immature person.
How is Gorlin syndrome treated?
Currently, there is no treatment or cure for Gorlin syndrome itself. Rather, treatment for Gorlin syndrome centers on the prevention, management and removal of tumors and cysts caused by the disease. There are a variety of options to remove the tumors and cysts caused by Gorlin syndrome.