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Disease Profile
Nevoid basal cell carcinoma syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Adolescent
ICD-10
C44.9
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Gorlin-Goltz Syndrome; Basal Cell Nevus Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies;
Categories
Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases;
Summary
Nevoid basal
Symptoms
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
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.