Gorlin Syndrome – Causes and Symptoms of Gorlin Syndrome

Gorlin syndrome is a rare inherited condition that affects connective tissues and skin. It is also called Nevoid Basal Cell Carcinoma Syndrome (NBCCS). This syndrome poses a higher risk of skin cancers, especially multiple basal cell carcinomas. This syndrome also affects bones, endocrine glands, eyes and nervous system. Hence it is also called Fifth Parkinsons disease. It is a type of autosomal dominant cancer.

People affected from gorlin syndrome experience multiple neoplasms that involves medulloblastoma and basal cell carcinomas. They are even sensitive to sunlight. The prevalence of the syndrome is estimated to be 1 in 57,000. According to the research studies in the United Kingdom, about 55,600 people are affected.

Causes of Gorlin Syndrome
Gorlin syndrome is a rare genetical disorder. It is caused as a result of mutation in the gene. The gene responsible for this mutation is present on the chromosome 9. The mutation changes the gene actual sequence thus making it abnormal. This results in gorlin syndrome.

The main factor that contributes to the gene mutation is climate change from cooler climates to intense hot climates. This sudden change makes the particular regions more prone to the syndrome. The races mostly affected by this syndrome are African Americans and Caucasians.

Gorlin syndrome is autosomal dominant and equally found among both men and women. Autosomal dominant means that one copy of the mutated gene is sufficient to cause the disease. The child inherits the syndrome if either parent is affected and passes the gene to the child.

Symptoms of Gorlin Syndrome
The signs and symptoms of gorlin syndrome include:

Common symptoms are:

  • Wide eyes
  • Sticking out Jaws
  • Protruding and heavy brow
  • Broad nose

Symptoms related to nervous system:

  • Seizures
  • Mental retardation
  • Swelling of the head due to the fluid in the brain
  • Defects in the lens of the eye
  • Deafness
  • Brain tumors
  • Blindness

Symptoms related to bone:

  • Abnormalities of the rib
  • Cyst formation in the jaw
  • Curvature formation at the back

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