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Nevoid basal cell carcinoma syndrome


Other Names:
Gorlin-Goltz Syndrome; Basal Cell Nevus Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Gorlin-Goltz Syndrome; Basal Cell Nevus Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies; Gorlin syndrome See More
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Nevoid basal cell carcinoma syndrome (NBCCS) leads to the growth of non-cancerous and cancerous tumors. The symptoms include basal cell cancers, jaw cysts, skin pits on the hands and feet, and abnormal deposits of calcium in the brain. Other symptoms may include bone abnormalities of the spine, ribs, or skull, and a large head. Some of the signs and symptoms of NBCCS are present at birth. There is an increased risk for a type of brain tumor (medulloblastoma) in childhood. Jaw cysts and basal cell cancers typically appear by adulthood. NBCCS occurs when the PTCH1, PTCH2, or the SUFU gene is not working correctly. It is inherited in an autosomal dominant manner. NBCCS is diagnosed based on clinical examination for specific features and genetic testing. Treatment is aimed at addressing the symptoms and associated cancers.[1][2][3] 
Last updated: 7/1/2020
The following list includes the most common signs and symptoms in people with nevoid basal cell carcinoma syndrome (NBCCS). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms may include:[1][4][5]
  • Abnormal deposits of calcium in the brain (cerebral calcification)
  • Skeletal abnormalities (bifid ribs, wedge-shaped vertebrae)
  • Skin pits on the hands and feet (palmar and plantar pits)
  • Large head size (macrocephaly)
  • Medulloblastoma (childhood brain tumor)
  • Multiple jaw cysts (odontogenic keratocysts)
  • Basal cell carcinoma
  • Abnormal or excessive tissue growth
  • Noncancerous tumors of the heart
  • Noncancerous tumors of the ovary
The first signs of NBCCS may be a large head and skeletal abnormalities. Skin pits and jaw tumors may develop in late childhood. By adulthood, basal cell cancers and other noncancerous tumors may appear. People with NBCCS are at increased risk to develop specific types of cancerous and noncancerous tumors.[1][2]
Last updated: 7/1/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Melanocytic nevus
Beauty mark
0000995
Neoplasm 0002664
Palmar pits 0010610
Plantar pits 0010612
30%-79% of people have these symptoms
Abnormality of the neck 0000464
Brachydactyly
Short fingers or toes
0001156
Scoliosis 0002650
Vertebral fusion
Spinal fusion
0002948
Vertebral wedging
Wedge-shaped vertebrae
0008422
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
5%-29% of people have these symptoms
Abnormality of the sense of smell
Abnormal sense of smell
Smell defect
[ more ] 		0004408
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Brachycephaly
Short and broad skull
0000248
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ] 		0000518
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Frontal bossing 0002007
Glaucoma 0000501
Hemivertebrae
Missing part of vertebrae
0002937
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypogonadotropic hypogonadism 0000044
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Iris coloboma
Cat eye
0000612
Mandibular prognathia
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] 		0000303
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Telecanthus
Corners of eye widely separated
0000506
Percent of people who have these symptoms is not available through HPO
Abnormality of the sternum
Sternal anomalies
0000766
Autosomal dominant inheritance 0000006
Basal cell carcinoma 0002671
Bifid ribs
Cleft ribs
Split ribs
[ more ] 		0000892
Bridged sella turcica 0005449
Broad face
Increased breadth of face
Increased width of face
Wide face
[ more ] 		0000283
Calcification of falx cerebri 0005462
Cardiac fibroma 0010617
Cardiac rhabdomyoma 0009729
Cleft palate
Cleft roof of mouth
0000175
Cleft upper lip
Harelip
0000204
Coarse facial features
Coarse facial appearance
0000280
Down-sloping shoulders
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ] 		0200021
Hamartomatous stomach polyps 0004795
Irregular ossification of hand bones 0004280
Kyphoscoliosis 0002751
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Medulloblastoma 0002885
Microphthalmia
Abnormally small eyeball
0000568
Milia
Milk spot
0001056
Motor delay 0001270
Odontogenic keratocysts of the jaw 0010603
Orbital cyst
Cyst of eye socket
0001144
Ovarian carcinoma 0025318
Ovarian fibroma 0010618
Parietal bossing 0000242
Polydactyly
More than five fingers or toes on hands or feet
0010442
Short 4th metacarpal
Shortened 4th long bone of hand
0010044
Short distal phalanx of the thumb
Short outermost bone of the thumb
0009650
Short ribs 0000773
Skin tags 0010609
Spina bifida 0002414
Sprengel anomaly
High shoulder blade
0000912
Supernumerary ribs
Extra ribs
0005815
Variable expressivity 0003828
Showing of 64 |
Last updated: 7/1/2020
Nevoid basal cell carcinoma syndrome occurs when the PTCH1, SUFU, or PTCH2 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[1][3] 
Last updated: 7/1/2020
Nevoid basal cell carcinoma syndrome (NBCCS) is inherited in an autosomal dominant pattern.[4] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one altered copy of a gene is necessary to have the condition. The alteration can be inherited from either parent. Sometimes an autosomal dominant condition occurs because of a new genetic alteration (de novo) and there is no history of this condition in the family.
  
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the alteration and the condition. Typically, children who inherit a dominant alteration will have the condition, but they may be more or less severely affected than their parent. Sometimes a person may have a gene alteration for an autosomal dominant condition and show no signs or symptoms of the condition.  

Last updated: 7/1/2020
Nevoid basal cell carcinoma syndrome (NBCCS) is diagnosed based on a clinical exam looking for a specific set of signs and symptoms.[6][7]. Genetic testing can be done to help with the diagnosis.
Last updated: 7/1/2020

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Treatment of nevoid basal cell carcinoma syndrome (NBCCS) is aimed at managing the symptoms and associated cancers. Basal cell cancer can be treated with chemotherapy, surgery, and other types of therapy.[1][3]

Specialists who may be involved in the care of someone with NBCCS include:
  • Cardiologist
  • Dermatologist
  • Medical geneticist
  • Ophthalmologist
  • Oncologist
Last updated: 7/1/2020
It has been estimated that 1 in 57,000 to 1 in 164,000 people has nevoid basal cell carcinoma syndrome (NBCCS).[8] The exact number of people with NBCCS is unknown.
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes: Sotos syndrome, Brooke-Spiegler syndrome, Bazex syndrome, Rombo syndrome, Muir-Torre syndrome, Beckwith-Wiedemann syndrome, isolated hydrocephaly or megalencephaly, an autosomal dominant or X-linked syndrome of hypotrichosis.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Nevoid basal cell carcinoma syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Organizations Providing General Support

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Cancer.net, a resource from the American Society of Clinical Oncology, provides information about this condition.
  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Nevoid basal cell carcinoma syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Nevoid basal cell carcinoma syndrome. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

  • The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  1. Bresler SC, Padwa BL, Granter SR. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome). Head Neck Pathol. Jun 2016; 10(2):119-24. https://www.ncbi.nlm.nih.gov/pubmed/26971503.
  2. Fujii K, Miyashita T. Gorlin syndrome (nevoid basal cell carcinoma syndrome): Update and literature review. Pediatr Int. Oct 2014; 56(5):667-74. https://www.ncbi.nlm.nih.gov/pubmed/25131638.
  3. Palacios-Álvarez I, González-Sarmiento R, Fernández-López E. Gorlin Syndrome. Síndrome de Gorlin. Actas Dermosifiliogr. 2018; 109(3):207-217. https://pubmed.ncbi.nlm.nih.gov/29373110.
  4. Evans DG, Farndon PA. Nevoid Basal Cell Carcinoma Syndrome. GeneReviews. Updated March 29, 2018; http://www.ncbi.nlm.nih.gov/books/NBK1151/.
  5. Chen JJ, Sartori J, Aakalu VK, Setabutr P. Review of ocular manifestations of nevoid basal cell carcinoma syndrome: What an ophthalmologist needs to know. Middle East Afr J Ophthalmol. Oct- Dec 2015; 22(4):421-7. https://www.ncbi.nlm.nih.gov/pubmed/26692711.
  6. Kimonis VE, Goldstein AM, Pastakia B, et al.. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997;69:299–308. 1997; 69:299-308. https://pubmed.ncbi.nlm.nih.gov/9096761.
  7. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA. Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet. 1993; 30:460-464. https://pubmed.ncbi.nlm.nih.gov/8326488.
  8. Castro-Mujica MDC, Barletta-Carrillo C, Poterico JA, Acosta M, Valer J, Cruz M. Síndrome de carcinoma de células basales nevoides (Síndrome Gorlin): reporte de dos casos y revisión de la literatura [Nevoid basal-cell carcinoma syndrome (Gorlin Syndrome): report of two cases and review of the literature]. Rev Peru Med Exp Salud Publica. 2017; 34(4):744-750. https://pubmed.ncbi.nlm.nih.gov/29364426.