Johanson-Blizzard syndrome

Dr Tim Luijkx and Dr Matt A. Morgan et al.

Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with a wide variability in its manifestations. It is thought to have autosomal recessive inheritance.

Clinical presentation

There is a wide variability in the clinical presentation, but common features are:

  • low birth weight
  • hypotonia
  • mental retardation (wide range)
  • delayed skeletal maturation, short stature
  • facial features
    • microcephaly
    • aplastic alae nasi
    • skin dimples and defects over the fontanelles
    • severe oligodontia
  • sensorineural deafness
  • exocrine pancreatic insufficiency
  • rectourogenital anomalies
  • hypothyroidism

Radiologic features

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Article information

rID: 33799
System: Paediatrics
Section: Syndromes
Synonyms or Alternate Spellings:

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