Conditions / Syndrome

primary ciliary dyskinesia 33

info · Syndrome · ICD-10: Q34.8

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.

Signs and symptoms

  • Chronic rhinitis
  • Ciliary dyskinesia
  • Recurrent lower respiratory tract infections
  • Bronchiectasis
  • Recurrent bronchitis
  • Recurrent otitis media
  • Cough
  • Recurrent pneumonia
  • Conductive hearing impairment
  • Atelectasis

Also known as: CILD33; primary ciliary dyskinesia 33 without situs inversus