Zimmermann-Laband syndrome

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.