Understanding Congenital Malformation Syndromes: Causes, Symptoms, and Management

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Congenital Malformation Syndromes

by Alike Medical Team ∙ Updated on June 13, 2023

Additional names

This group contains additional names: - Gorlin syndrome

General

Gorlin syndrome, is a rare genetic disorder affecting every organ system of the human body. People with Gorlin syndrome are at increased risk of developing basal cell carcinoma (BCC) skin cancers and non-cancerous tumors. Gorlin syndrome is caused by a mutation in genes called PTCH, who make proteins that surpasses cell proliferation. When PTCH genes does not function properly, cells grow too quickly and form tumors.

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Signs & symptoms

People with the syndrome experiences variety of signs: Basal cell carcinomas (BCCs) Benign cysts in the jawbone, called odontogenic keratocystic tumors (OKCs) Small depressions, or pits in the palm of the hand and soles of the feet Improperly formed bones of the spine, ribs and skull Meningiomas. Medulloblastoma Benign cysts of the ovaries

Diagnosis

Gorlin criteria is criteria used to diagnose the disease. To diagnose, a patient needs to have two major criteria and one minor, OR one major criterion and at least three minor criteria. The major criteria are, two or more basal cell carcinomas (BCCs) that appear prior to age 30, keratocystic odontogenic tumors (KCOTS), Small dots or pits on the palms and soles, calcified falx cerebri or calcium deposits in the brain, a family history of Gorlin syndrome. The minor ceiteria are Medulloblastoma, 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, benign fibrous tumors in the ovaries or heart ,abdominal cysts, calcified ovarian cysts. Genetic testing is also a possible to diagnose the disease, by detecting the specific mutation in the PTCH gene.

Treatment

There is no treatment or cure for Gorlin syndrome itself. The treatment is mainly based on prevention, management and removal of tumors and cysts caused by the disease.

Note

☝ We provide information on prescription and over-the-counter medicines, diagnosis, procedures and lab tests. This material is provided for educational purposes only and is not medical advice, diagnosis or treatment.

National Institutes of Health ∙ World Health Organization ∙ MedlinePluse ∙ Centers for Disease Control and Prevention

☝ All information has been reviewed by certified physicians from Alike

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