Johanson-Blizzard syndrome

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

Clinical presentation

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

• low birth weight
• hypotonia
• intellectual disability (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

• pancreatic lipomatosis
• hydronephrosis
• delayed skeletal maturation
• cystic dilatation of the cochlea and vestibule