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1p36 deletion syndrome: Year of the Zebra
Alagille syndrome (NORD): Year of the Zebra
Alkaptonuria: Year of the Zebra
Cornelia de Lange syndrome: Year of the Zebra
Fibromuscular dysplasia: Year of the Zebra
FOXG1 syndrome: Year of the Zebra
Gaucher disease (NORD): Year of the Zebra
Gorlin syndrome: Year of the Zebra
Leprosy: Year of the Zebra
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Year of the Zebra
Nail-patella syndrome: Year of the Zebra
PGAP3-congenital disorder of glycosylation: Year of the Zebra
PHACE syndrome: Year of the Zebra
Phenylketonuria (NORD): Year of the Zebra
Pierre Robin sequence: Year of the Zebra
Retroperitoneal fibrosis: Year of the Zebra
Sanfilippo syndrome: Year of the Zebra
Shwachman-Diamond syndrome: Year of the Zebra
Thoracic outlet syndrome: Year of the Zebra
Turner syndrome: Year of the Zebra
Living with Gorlin Syndrome
Year of the Zebra
Gorlin syndrome is a rare genetic disorder that affects approximately 1 in 31,000 people worldwide. At the most basic level, people with Gorlin syndrome have an increased lifetime risk of tumors, both cancerous and non-cancerous, in nearly any organ of their body. The most common tumor experienced is a skin cancer called basal cell carcinoma, so the disease is also known as basal cell carcinoma nevus syndrome.
Because of the rarity of the disease, your doctors might not recognize or know much about Gorlin syndrome. Medical care may be delayed or compromised if it is not identified, so it is important for people with Gorlin syndrome and their family members to learn about the syndrome and be able to effectively manage care.
Gorlin syndrome is caused by a defect in a gene that suppresses tumors in a person’s body. Genes are like instructions for cells. Every cell has two copies of each gene. We inherit one gene from each parent. Sometimes, we inherit a mutated gene from one parent, and sometimes a gene mutates on its own. If one gene is mutated then the other gene can suppress tumor growth on its own to a degree. This means that if a person with Gorlin syndrome has only one broken copy of a tumor suppressing gene in each cell, they may have some features of the disease. If any cell in their body develops a second mutation that affects the working copy of the tumor suppressing gene, then the cell has no way to prevent itself from replicating out of control.The cells will begin to pile up into a mass, and a tumor will form. People with Gorlin syndrome usually have tumor growth at some point in their lives, but how many develop, at what age and which organs are affected is variable.
There are three genes known to cause Gorlin syndrome: PTCH1, PTCH2 and SUFU. Genetic testing may identify which defect you have. The specific gene that is altered can affect which manifestations and symptoms you experience. A genetic counsellor can explain the risks associated with your specific gene mutation.
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