Zimmerman-Laband syndrome

Synonyms

2

Overview

Zimmerman-Laband syndrome (ZLS), also known as Laband's Syndrome, is an extremely rare genetic disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

Symptoms

The Zimmermann-Laband syndrome has highly variable clinical expression including: 

  • bulbous soft nose 
  • thickened lips 
  • thick and floppy ears  
  • gingival hypertrophy or fibromatosis
  • hyperextensibility of joints
  • hypoplasia of the nails or terminal phalanges of the hands and feet
  • hepatosplenomegaly
  • hypertrichosis  
  • hearing loss. 

 

Intellectual deficit is occasional and usually mild to moderate. The overgrown gingival tissues can affect the ability to speak.

Causes

Early reports suggest that Laband syndrome is inherited as an autosomal dominant trait. However, evidence for autosomal recessive inheritance exists as well. The location and nature of the genetic defect (e.g., the defective gene) responsible for Laband syndrome are not yet known. However, ongoing research studies are being conducted to help determine such information. Some researchers have indicated that a, as yet unidentified, gene on the short arm (p) of chromosome 3 may cause some cases of Laband syndrome.

Diagnosis

In most cases, Laband syndrome may be diagnosed during early childhood. The diagnosis may be confirmed based upon a thorough clinical evaluation, a detailed patient history, and a variety of specialized tests. X-ray studies of the fingers and/or toes (digits) and clinical examination of the nose, ears, lips, and tongue may be helpful in identifying the disorder. Malformation or absence of the nails may be apparent at birth (congenital). Confirmation of Laband syndrome may not be made until gingival fibromatosis is observed when the primary teeth appear.

Because affected children may be at risk for abnormal enlargement of the liver or spleen, prompt diagnosis of Laband syndrome is critical to ensure appropriate early treatment.

Prognosis

Prognosis is dominated by the risk of recurrence, which is high. Physical systemic evaluation is essential. The syndrome is not life-threatening.

Treatment

The treatment of Laband syndrome is directed toward the specific symptoms that are apparent in each affected individual and health care professionals may need to work together to ensure a comprehensive, systematic approach to treatment.

  • pediatricians
  • dentists and orthodontists to assess and correct irregularities of the teeth 
  • orthopedists to diagnose and treat skeletal abnormalities  
  • orthopedic and dental surgeons 
  • periodontists to treat disorders affecting the tissues supporting and surrounding the teeth  

 

Individuals with gingival fibromatosis and hypertrichosis may be at an increased risk for convulsive seizures (epilepsy). Epilepsy may be treated with anticonvulsant drugs that may help to control or prevent seizure activity.