Basal cell naevus syndrome / Gorlin syndrome

Synonyms: BCNS, Nevoid basal cell carcinoma syndrome (NBCCS)

Material:

EDTA blood
(1 ml)

TAT:

3-6 weeks

Method:

NGS, CNV

Overview

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is an inherited syndrome characterized by multiple basal cell carcinomas, jaw keratocysts, ectopic falx calcification, distinctive craniofacial features, palmar and plantar pits, and a predisposition to various malignancies, including childhood medulloblastoma.

Basal cell naevus syndrome / Gorlin syndrome

3 Gene(s)*

PTCH1

PTCH2

SUFU

Clinical description

Frequency

Causes

Inheritance

Diagnosis

Differential diagnosis

Role of genetic testing

References

Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

Last Update : 24.09.2026

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