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Joubert syndrome

What is Joubert syndrome?

A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

Other condition names

  • CPD IV
  • Cerebelloparenchymal disorder IV
  • Classic Joubert syndrome
  • Joubert syndrome type A
  • Joubert-Boltshauser syndrome
  • Pure Joubert syndrome

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Antenatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.