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Zimmermann-Laband syndrome
Other Resources UpToDate PubMed

Zimmermann-Laband syndrome

Contributors: Mack Su, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
699447001 – Zimmermann-Laband syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Temple-Baraitser syndrome – Lacks hypertrichosis and hypoplasia or aplasia is seen only on great toe and thumb, but some consider this syndrome to exist on a spectrum with ZLS.
  • FHEIG syndrome – Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability / developmental delay, and gingival overgrowth.
  • Coffin-Siris syndrome
  • Congenital generalized hypertrichosis with or without gingival hyperplasia
  • X-linked hypertrichosis

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:08/27/2020
Last Updated:01/18/2022
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Zimmermann-Laband syndrome
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A medical illustration showing key findings of Zimmermann-Laband syndrome : Hepatosplenomegaly, Gingival hypertrophy, Hearing loss, Hypertrichosis
Copyright © 2022 VisualDx®. All rights reserved.