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Start free with EleplanGorlin syndrome
ORPHA:377Malformation syndrome
Also called Basal cell nevus syndrome · Gorlin-Goltz syndrome · NBCCS · Nevoid basal cell carcinoma syndrome
What it is
A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.
Key facts
- Prevalence
- 1-9 / 100 000
- Age of onset
- Adolescent, Adult
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
5- Cerebral calcification
- Melanocytic nevus
- Neoplasm
- Palmar pitsDiagnostic criterion
- Plantar pitsDiagnostic criterion
Common30–79%
14- Abnormality of the neck
- Abnormal rib morphologyDiagnostic criterion
- Anterior rib cuppingDiagnostic criterion
- Basal cell carcinomaDiagnostic criterion
- Bifid ribsDiagnostic criterion
- Brachydactyly
- Calcification of falx cerebriDiagnostic criterion
- MacrocephalyDiagnostic criterion
- Odontogenic keratocysts of the jawDiagnostic criterion
- Rib fusionDiagnostic criterion
- Scoliosis
- Vertebral fusion
- Vertebral wedging
- Wide nasal bridge
Sometimes5–29%
24- Abnormality of the sense of smell
- Abnormal vertebral morphologyDiagnostic criterion
- Arachnodactyly
- Brachycephaly
- Bridged sella turcica
- Carious teeth
- CataractDiagnostic criterion
- Coarse facial featuresDiagnostic criterion
and 16 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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