Zimmermann-Laband syndrome

Definition:

Zimmermann-Laband syndrome (ZLS) is a rare craniofacial malformation syndrome with predominant intraoral involvement consisting in diffuse gingival fibromatosis of early onset. Most cases are sporadic, suggesting autosomal dominant inheritance with de novo mutations. The main clinical characteristics of ZLS are gingival enlargement, prominent nose and thick ears with soft cartilages, nail aplasia or hypoplasia, hypertrichosis, joint hyperextensibility, hepato(spleno)megaly, and intellectual disability with or without epilepsy. Mutations in KCNH1 and ATP6V1B2 account for a proportion of ZLS.

References:

[1]. Christiane K Bauer, et al. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. Am J Hum Genet. 2019 Jun 6;104(6):1139-1157. [Content Brief]

[2]. Fanny Kortüm, et al. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. Nat Genet. 2015 Jun;47(6):661-7. [Content Brief]

[3]. Marco Castori, et al. Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review. Eur J Med Genet. 2013 Oct;56(10):570-6. [Content Brief]

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