Zimmermann–Laband syndrome

Also known as: Gingival fibromatosis with nail dysplasia

Gingival fibromatosis with absent nails and coarse facies.

Medical specialty: Dentistry
Subspecialty: Dentistry / Periodontology
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: ATP6V1B2, KCNH1, KCNN3

Etiology & mechanism

KCNH1 or ATP6V1B2 mutation.

Gene(s) involved (3)

ATP6V1B2KCNH1KCNN3

Symptoms & signs (4)

coarse faciesgingival fibromatosishepatosplenomegalynail dysplasia

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.