Nevoid basal cell carcinoma syndrome
Other Names for this Disease
- Basal Cell Nevus Syndrome
- Fifth Phacomatosis
- Gorlin Syndrome
- Gorlin-Goltz Syndrome
- Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Signs and symptoms in affected people may include:
- large head size (macrocephaly), large forehead (bossing of the forehead), coarse facial features, and/or facial milia (bumps on the skin that look like clogged pores or whiteheads)
- skeletal abnormalities of the ribs and/or spine (bifid ribs, wedge-shaped vertebrae)
- medulloblastoma (childhood brain tumor) in about 5% of affected children
- multiple jaw keratocysts (usually in the second decade of life)
- basal cell carcinoma
- sebaceous and dermoid cysts
- cardiac and ovarian fibromas
The Human Phenotype Ontology provides the following list of signs and symptoms for Nevoid basal cell carcinoma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- D Gareth Evans and Peter A Farndon. Nevoid Basal Cell Carcinoma Syndrome. GeneReviews. March 7, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1151/. Accessed 7/16/2014.