Zimmermann-Laband syndrome

Zimmermann-Laband syndrome (ZLS), also known as Laband syndrome or gingival fibromatosis with distinctive facies, is a rare genetic disorder characterized by gingival fibromatosis (overgrowth of the gum tissue), distinctive facial features, and abnormalities of the fingers and toes. The condition primarily affects the oral and craniofacial structures, the skeletal system (particularly the distal phalanges of the hands and feet), and in some cases the central nervous system. Key clinical features include pronounced gingival hyperplasia that may be present at birth or develop in early childhood, which can interfere with tooth eruption and dental alignment. Affected individuals typically have coarse facial features including a bulbous soft nose, thick floppy ears with soft cartilage, and full lips. The fingers and toes often show hypoplasia or aplasia of the nails and terminal phalanges. Hepatosplenomegaly (enlargement of the liver and spleen) may also occur. Some patients experience intellectual disability, seizures, or hearing loss, though cognitive function can be normal. Zimmermann-Laband syndrome has been associated with pathogenic variants in the KCNH1 gene (ZLS type 1) and the ATP6V1B2 gene (ZLS type 2), both of which encode ion channel or proton pump proteins. The condition typically follows an autosomal dominant inheritance pattern, though many cases arise as de novo (new) mutations. Treatment is symptomatic and supportive. Gingival overgrowth often requires surgical reduction (gingivectomy), which may need to be repeated due to recurrence. Dental management, orthopedic care for skeletal anomalies, and neurological support for seizures or developmental concerns are important components of multidisciplinary care. There is currently no cure or disease-specific therapy available.

Common questions about Zimmermann-Laband syndrome