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Zimmermann-Laband Syndrome

Zimmermann-Laband Syndrome (ZLS)

Zimmermann-Laband syndrome is a rare genetic disorder characterized by gingival fibromatosis, distinctive facial features, and abnormalities of the hands and feet. Also known as Laband syndrome or Zimmermann-Laband-Imhof syndrome.

Key Points

  • Inheritance Pattern: Autosomal dominant
  • Primary Genes: KCNH1, ATP6V1B2, and KCNH2
  • Age of Onset: Usually evident in early infancy or early childhood
  • Prevalence: Extremely rare, with fewer than 50 cases reported in medical literature

Clinical Manifestations

Oral Features

  • Progressive gingival hyperplasia beginning in early childhood
  • Enlargement of maxillary and mandibular gingiva
  • Delayed tooth eruption or abnormal dentition
  • Malocclusion and high-arched palate

Craniofacial Features

  • Coarse facial features with characteristic soft tissue enlargement
  • Thick lips and broad nasal tip
  • Enlarged bridge of nose
  • Heavy eyebrows and long eyelashes

Skeletal Abnormalities

  • Hypoplastic or absent nails (particularly terminal phalanges)
  • Enlarged joints, especially in fingers and toes
  • Hyperextensible joints
  • Hepatosplenomegaly in some cases

Neurological Features

  • Intellectual disability (variable severity)
  • Seizures in approximately 25% of cases
  • Hypotonia in infancy

Diagnosis and Management

Diagnostic Criteria

  • Clinical examination of characteristic features
  • Genetic testing for KCNH1, ATP6V1B2, and KCNH2 mutations
  • Family history assessment
  • Radiographic evaluation of skeletal features

Management Approach

  • Multidisciplinary team involvement including pediatric dentist, orthodontist, plastic surgeon, and geneticist
  • Regular dental care and periodontal maintenance
  • Surgical management of gingival hyperplasia when necessary
  • Anticonvulsant therapy for patients with seizures
  • Physical therapy for joint problems
  • Regular developmental assessment and appropriate interventions

Monitoring Requirements

  • Regular dental evaluation every 3-6 months
  • Annual neurological assessment
  • Growth and development monitoring
  • Regular assessment of joint mobility and function

Genetic Basis and Inheritance

Molecular Genetics

  • KCNH1 gene mutations: Most common cause (ZLS1)
  • ATP6V1B2 gene mutations: Second variant (ZLS2)
  • KCNH2 gene mutations: Recently identified variant (ZLS3)

Inheritance Pattern

Autosomal dominant inheritance with high penetrance but variable expressivity. New mutations account for some cases with no family history.

Genetic Counseling

  • 50% chance of transmission to offspring
  • Prenatal testing available for known familial mutations
  • Importance of genetic counseling for family planning


Further Reading


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