Dermatology · Dermatology / Genodermatoses
Gorlin syndrome
also: Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome
Multiple basal cell carcinomas, jaw keratocysts and skeletal anomalies.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Genodermatoses
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, features begin in childhood
- Gene(s) involved
- PTCH1, PTCH2, SUFU
- Alternative names & eponyms
- Basal cell nevus syndrome; Nevoid basal cell carcinoma syndrome
Etiology & mechanism
Hedgehog pathway activation from loss of the tumor suppressor PTCH1.
Gene(s) involved (3)
Symptoms & signs (7)
In plain terms, someone with Gorlin syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Bannayan–Riley–Ruvalcaba syndrome
macrocephaly
1 shared
Bannayan–Riley–Ruvalcaba syndrome with neurological involvement
macrocephaly
1 shared
Bazex–Dupré–Christol syndrome
basal cell carcinomas
1 shared
Cowden syndrome
macrocephaly
1 shared
DICER1 syndrome
macrocephaly
1 shared
Kenny–Caffey syndrome
macrocephaly
1 shared
Lhermitte–Duclos syndrome
macrocephaly
1 shared
Lujan–Fryns syndrome
macrocephaly
1 shared
Opitz–Kaveggia syndrome
macrocephaly
1 shared
Sotos syndrome
macrocephaly
Shares genes with
None.
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