Overview
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS) or basal cell nevus syndrome, is a rare autosomal dominant genetic disorder caused primarily by pathogenic variants in the PTCH1 gene (and less commonly PTCH2 or SUFU), which encodes a receptor in the Hedgehog signaling pathway. This condition predisposes affected individuals to multiple basal cell carcinomas (BCCs), often appearing at a young age, along with a wide range of developmental anomalies affecting multiple organ systems including the skin, skeletal system, nervous system, eyes, and reproductive organs. Key clinical features include multiple basal cell carcinomas that may appear from adolescence onward, odontogenic keratocysts (keratocystic odontogenic tumors) of the jaw that typically develop in the first or second decade of life, calcification of the falx cerebri, skeletal anomalies such as bifid or fused ribs, spina bifida occulta, and characteristic facial features including macrocephaly, frontal bossing, and coarse facial features. Palmar and plantar pits are a hallmark finding. Affected individuals also have an increased risk of medulloblastoma (particularly the desmoplastic variant in early childhood), cardiac and ovarian fibromas, and other neoplasms. Management of Gorlin syndrome requires a multidisciplinary approach and lifelong surveillance. Treatment of basal cell carcinomas may include surgical excision, photodynamic therapy, topical therapies, and targeted Hedgehog pathway inhibitors such as vismodegib and sonidegib, which have shown efficacy in reducing tumor burden. Radiation therapy is generally avoided due to the heightened risk of inducing additional BCCs in the irradiated field. Regular dermatologic screening, dental imaging for jaw cysts, and neurological monitoring in childhood are essential components of care. Genetic counseling is recommended for affected individuals and their families.
Also known as:
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood to adulthood
Can begin any time from childhood through adulthood
FDA & Trial Timeline
3 eventsNathalie Zeitouni — PHASE1
Sol-Gel Technologies, Ltd. — PHASE3
National Cancer Institute (NCI) — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Gorlin syndrome.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Gorlin syndrome.
Community
No community posts yet. Be the first to share your experience with Gorlin syndrome.
Start the conversation →Latest news about Gorlin syndrome
Disease timeline:
New recruiting trial: Blue-Light Photodynamic Therapy and Sonidegib for Multiple Basal Cell Carcinomas
A new clinical trial is recruiting patients for Gorlin syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Gorlin syndrome
What is Gorlin syndrome?
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS) or basal cell nevus syndrome, is a rare autosomal dominant genetic disorder caused primarily by pathogenic variants in the PTCH1 gene (and less commonly PTCH2 or SUFU), which encodes a receptor in the Hedgehog signaling pathway. This condition predisposes affected individuals to multiple basal cell carcinomas (BCCs), often appearing at a young age, along with a wide range of developmental anomalies affecting multiple organ systems including the skin, skeletal system, nervous system, eyes, and reproductive organs. Key
How is Gorlin syndrome inherited?
Gorlin syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Gorlin syndrome typically begin?
Typical onset of Gorlin syndrome is childhood to adulthood. Age of onset can vary across affected individuals.
Are there clinical trials for Gorlin syndrome?
Yes — 1 recruiting clinical trial is currently listed for Gorlin syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Gorlin syndrome?
25 specialists and care centers treating Gorlin syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.