nevoid basal cell carcinoma syndrome
Findings
No curated finding names nevoid basal cell carcinoma syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0007187), read 2026-09-29. CC BY 4.0.
Features
45 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Cerebral calcificationHPOHP:0002514
- Very frequent (80% to 99% of cases)
- Melanocytic nevusHPOHP:0000995
- Very frequent (80% to 99% of cases)
- NeoplasmHPOHP:0002664
- Very frequent (80% to 99% of cases)
- Palmar pitsHPOHP:0010610
- Very frequent (80% to 99% of cases)
- Plantar pitsHPOHP:0010612
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Abnormality of the neckHPOHP:0000464
- Frequent (30% to 79% of cases)
- Anterior rib cuppingHPOHP:0000907
- Frequent (30% to 79% of cases)
- Basal cell carcinomaHPOHP:0002671
- Frequent (30% to 79% of cases)
- Bifid ribsHPOHP:0000892
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Calcification of falx cerebriHPOHP:0005462
- Frequent (30% to 79% of cases)
Show the remaining 33
- MacrocephalyHPOHP:0000256
- Frequent (30% to 79% of cases)
- Odontogenic keratocysts of the jawHPOHP:0010603
- Frequent (30% to 79% of cases)
- Rib fusionHPOHP:0000902
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Vertebral fusionHPOHP:0002948
- Frequent (30% to 79% of cases)
- Vertebral wedgingHPOHP:0008422
- Frequent (30% to 79% of cases)
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTCH1HGNC:9585
- Definitive · ClinGen · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
- SUFUHGNC:16466
- Definitive · Illumina · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- PTCH2HGNC:9586
- Moderate · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · ClinGen · Autosomal dominant · 2018
Where it sits
Other names
6 names
Resolves to: nevoid basal cell carcinoma syndrome
- Also called
- basal cell nevus syndromeGorlin syndromeGorlin-Goltz syndromemultiple basal cell carcinomasNBCCSnevoid basal cell cancer syndrome