Zimmerman-Laband syndrome

Last revised by Andrew Murphy on 18 Aug 2019

Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities. 

The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with a high mutation rate and rare instances of germinal mosaicism currently seem the most likely inheritance pattern. 

  • gingival hypertrophy
  • bulbous nose and thick ears
  • abnormal hands
    • clubbed fingers and toes
    • nail hypoplasia/dysplasia
    • hypoplasia of the terminal phalanges of the hands and feet.
  • intellectual disability (variable severity)
  • seizures
  • hypetrichosis
  • other skeletal abnormalities
  • skeletal abnormalities
    • hypoplasia of the terminal phalanges of the hands and feet
    • possible limb asymmetry
    • possible kyphosis
    • possible lumbar spondylodysplasia
    • possible mandibular hypertrophy

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