Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis and hypoplastic or aplastic nails and distal phalanges. Other common clinical features include facial dysmorphism, hepatosplenomegaly, intellectual disability, and hypertrichosis. Although ZLS can be inherited in an autosomal dominant fashion, most cases reported in the literature are sporadic.
Three variants of ZLS have been identified based on the underlying genetic mutation. Mutations in KCNH1 cause ZLS1, mutations in ATP6V1B2 cause ZLS2, and mutations in KCNN3 cause ZLS3.
Zimmermann-Laband syndrome
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Synopsis
Codes
ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
SNOMEDCT:
699447001 – Zimmermann-Laband syndrome
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified
SNOMEDCT:
699447001 – Zimmermann-Laband syndrome
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Last Reviewed:08/27/2020
Last Updated:01/18/2022
Last Updated:01/18/2022