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
Alerts and Notices
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
Look For
Subscription Required
Diagnostic Pearls
Subscription Required
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
Subscription Required
Management Pearls
Subscription Required
Therapy
Subscription Required
References
Subscription Required
Last Reviewed:08/27/2020
Last Updated:01/18/2022
Last Updated:01/18/2022