Managing Gorlin Syndrome

Practice safe sun habits

People with Gorlin syndrome are more likely to get multiple basal cell carcinomas over their lifetime. Basal cell carcinomas are more likely to develop on skin which is exposed to the sun. This means practicing safe sun habits is necessary.

Before going outside, apply sunscreen to your/your child’s face and body (preferably sunscreen with SPF 30 or higher that contains zinc oxide and/or titanium dioxide). Cover exposed skin with sun-protective clothing, including a wide-brimmed hat and sunglasses. Some sun-protective clothes even have SPF built into the fabric.

While outside, position yourself or your child in the shade, especially when the sun is at its strongest between 10 a.m. and 4 p.m. Reapply sunscreen with SPF 30 or higher at least every 2 hours. If you/your child are swimming or sweating a lot, reapply sunscreen more frequently.

Visit the Dermatologist

See your/your child’s dermatologist for regular full-body skin cancer checks, including checking skin that is not usually exposed to the sun. If the dermatologist does find signs of skin cancer, you/your child may be seen more frequently for follow-up visits.

Consider vitamins and supplements

It is common for people with Gorlin syndrome to not have enough vitamin D in their bodies. Vitamin D is important for bone health and for strengthening the immune system (the system in the body that fights against illness and germs). Ask the care team if you/your child may need a vitamin D supplement in addition to eating a healthy diet. Most adults get about 1,000-4,000 international units (IU) of vitamin D per day. Your/your child’s care team can provide personalized recommendations for how much supplemental vitamin D you/your child may need.

Avoid excessive radiation

Radiation exposure can contribute to the development of BCCs in people with Gorlin syndrome. Radiation is commonly found in different imaging machines, like x-rays or computerized tomography (CT) scans. It can also be used to treat various types of cancer or shrink tumors. Unless they are necessary, try to avoid x-rays, CT scans, and radiation therapy. Make sure that your health care team is aware of this issue. An MRI scan is obtained without radiation exposure.

Recommended baseline tests and exams for newly diagnosed individuals:

MRI of the brain
Cardiac ultrasound
For infants, measurement of head circumference
For infants, physical exam to identify significant birth defects
Full body skin check by a dermatologist for basal cell carcinomas (BCCs) and other issues
Digital panorex of jaw for odontogenic keratocystic tumors (OKCs) starting at age 8
MRI of the spine (age 1 year or older) if medulloblastoma is suspected
Pelvic ultrasound (females only, after first period)
Ophthalmology exam
Genetics evaluation
Psychological examination to establish emotional support plan

Recommended monitoring for adults with Gorlin syndrome:

An MRI of the brain if symptoms are found in the baseline test
A digital panorex of jaw done annually or more often if OKCs are present
Skin examinations by a dermatologist every four months or more frequently if there are BCCs present
Regular spine MRIs if there is presence of scoliosis
Annual hearing, vision and speech evaluations
Cardiac ultrasounds if heart symptoms are found in the baseline test
For women, regular pelvic ultrasounds, if ovarian fibromas are found in the initial test
For women, regular gynecologic health checks
Annual genetics evaluation
Regular psychological examinations for emotional health
Annual nutritional assessment
Annual neurology evaluation (if prior medulloblastoma)

Children

Gorlin syndrome is a rare genetic condition that begins before birth. About two-thirds of individuals with Gorlin syndrome inherit it from a parent, with each child of an affected parent having a 50% chance of inheriting the condition.

Early Signs & Diagnosis Some features may be visible at birth, such as:

Large head size (macrocephaly)
Broad forehead
Wide-set eyes
Skin cysts (milia)
Cleft lip or palate
Eye abnormalities (e.g., small eyes, cataracts, coloboma, strabismus)

Monitoring & Medical Care

Children with Gorlin syndrome benefit from regular monitoring to detect and manage symptoms early. Common evaluations may include:

Skin checks
Jaw imaging
Brain and spine MRIs (as needed)
Vision, hearing, and speech assessments
Cardiac and pelvic ultrasounds (if symptoms present)
Genetic evaluations and psychological support

Care plans should be customized with a healthcare team based on the child's unique needs.

Development & Emotional Health

Some children may experience developmental delays, especially with motor skills, though most catch up by age 5. Emotional wellness is also essential, as children may face anxiety or sadness from feeling “different.”

Tips to support your child:

Talk openly about Gorlin syndrome
Help them understand and prepare for medical procedures
Focus on strengths and give age-appropriate choices
Connect with others facing similar challenges
Work with teachers to support learning; some children may benefit from an IEP or 504 Plan

Mental Health: Children with chronic conditions are at increased risk of depression. If your child shows signs such as ongoing sadness, fatigue, or loss of interest in usual activities for more than two weeks, consider speaking with a mental health professional.

Women

Gorlin syndrome affects all genders equally, but women may face unique health considerations—especially related to reproductive health, pregnancy, and family planning.

Ovarian Health

Up to 25% of women with Gorlin syndrome develop ovarian fibromas. These non-cancerous tumors can cause:

Heavy or irregular periods
Frequent urination
Lower back or abdominal pain

Fibromas rarely affect fertility, but regular pelvic ultrasounds are recommended to monitor growth and catch any issues early.

Family Planning & Genetic Testing

When one or both partners carry the Gorlin syndrome gene mutation, preimplantation genetic diagnosis (PGD) is an option. This process, done alongside IVF, allows embryos to be tested for the PTCH mutation before implantation—offering a way to reduce the chance of passing on Gorlin syndrome.

PGD is safe and effective, but it can be emotionally and financially demanding. Speak with a reproductive specialist for guidance. Use the Society for Assisted Reproductive Technology’s clinic finder to locate a provider near you.

Pregnancy & Delivery Considerations

Parents with Gorlin syndrome have a 50% chance of passing the condition to their child. Prenatal genetic testing options include:

Chorionic villus sampling (CVS) in the first trimester
Amniocentesis in the second trimester

Because babies with Gorlin syndrome often have larger head sizes, close monitoring during pregnancy is recommended. In some cases, early induction or cesarean delivery may be advised.

Managing Gorlin Syndrome

The management of Gorlin syndrome centers on three areas of action: prevention, surveillance and treatment. While not all people with Gorlin syndrome share the same set of symptoms, the approach to disease management is the same.

Prevention