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Gorlin Syndrome
Thursday, 05 August 2004
Monday, 29 November 2004
Nevoid basal cell carcinoma syndrome


Gorlin syndrome is a rare, inherited genetic disorder that is characterized by developmental abnormalities and a tendency to skin cancer at an early age. The abnormalities (or anomalies) may involve almost every part of the body and the type of problems that are present in the childhood period can be highly variable.


Internationally, the incidence of Gorlin syndrome is estimated to be around 1 in 150,000 persons. There is no racial or gender predilection and childhood cases have been reported as early as 2 years of age. It is often difficult to diagnose in children because many of the typical findings develop in the 2nd or 3rd decade. However, the presence of skin cancer or other tumors at a young age should raise concern.

Signs and Symptoms

Children with Gorlin syndrome will display some or all of the following depending upon their age:

  • Skeletal anomalies - missing ribs, abnormal curvature of the spine (scoliosis), fused fingers and toes, redundant fingers or toes, chest wall deformity, and abnormal elevation of the shoulder blade.
  • Skin –moles with irregular borders and pigmentation, skin pits in the palms and undersurface of the feet.
  • Eye – cataracts, blindness, small eyes, exaggerated distance between eyes.
  • Facial – cleft lip or palate, missing teeth, cysts in the jaw (presents as mass), abnormally shaped ears.
  • Genital – undescended testicles, cysts on ovaries.
  • Brain – mental retardation, seizures, increased pressure in the brain, brain tumors (specifically a type known as medulloblastoma), hearing loss. The appearance of brain tumors in this syndrome is rare.
  • Gastrointestinal – polyps in the stomach

Possible Causes

Gorlin syndrome is caused by DNA mutations in a gene responsible for suppressing cancer (tumor suppressor gene). The gene is located 9th chromosome and the gene defect is inherited in an autosomal dominant fashion. While most autosomal dominant conditions result in disease, the Gorlin gene defect only results in disease when there is a secondary gene insult.


Making the diagnosis of Gorlin syndrome can be challenging in children because of the variability in the expression of the disease. Diagnostic criteria have been developed and the clinical features are divided into major and minor criteria. Recognition of characteristic physical features is important and the presence of skin cancer (especially basal cell carcinoma) in a young person should prompt an evaluation for Gorlin syndrome. Major criteria include: 2 or more basal cell skin cancer lesions at less than 20yrs of age, keratogenic cysts of the jaw, 3 or more pits in the palms or undersurface of the feet, rib abnormalities, calcium deposits in the brain, and an affected first-degree relative. In addition to repeated physical exams, imaging studies of the brain, jaw, bones, heart, and ovaries are important. Genetic testing for DNA mutations and analysis can be performed for confirmation. There are no specific blood tests needed.


There is unfortunately no cure for Gorlin syndrome. Care should be supportive and a coordinated effort among multiple specialists is needed. Surgical removal of skin cancers is an option limited to those with a few lesions. Topical chemotherapy, laser removal, and photodynamic therapy are other non-surgical options. In those few children with medulloblastoma, chemotherapy and surgery are required to eradicate the tumor. The application of vitamin A derivatives such as Retin-A as prevention for skin cancer is sometimes recommended.


Gorlin syndrome can result in significant health problems due to all the anomalies and organ systems involved. However, early death is not common unless complications from medulloblastomas develop.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Gorlin Syndrome Group
UK based group formed in 2003 to create a worldwide family network

Contact a Famliy
A UK based website to connect families with disabled children.

Website with very interesting pictures.

Google Search for Gorlin Syndrome

References and Sources

1. Manfredi, M. et. al. (2004) Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg 33(2):117-24, 2004. 2. Chung, C.H., et al. (2003) Nevoid basal cell carcinoma syndrome - clinical manifestations and mutation analysis of a Taiwanese family. J Formos Med Assoc E-Medicine article: Andrew Walter M.D.