Congenital Malformation Syndromes
What is it?
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.
4 Alikes with Congenital Malformation Syndromes
Learn from others
who are experiencing
Congenital Malformation Syndromes.
Additional names
This group contains additional names:
- Gorlin syndrome
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.
☝️ This is not a substitute for professional medical advice. Please consult with your physician before making any medical decision.
Learn more about our editorial process for content accuracy.
Source of Information - We analyze big data of more than 23 million patients de-identified medical records from the following sources:
Find people who are
experiencing a similar
medical reality
Free
Alike Wisdom
Instantly get answers to medical questions with our AI, built from the collective wisdom of our community facing similar experiences
You might also like