Conditions / Syndrome

primary ciliary dyskinesia 30

info · Syndrome · ICD-10: Q34.8

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects an

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.

Signs and symptoms

  • Decreased nasal nitric oxide
  • Ciliary dyskinesia
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Bronchiectasis
  • Situs inversus totalis
  • Chronic sinusitis
  • Asthma
  • Cough
  • Nasal polyposis

Also known as: CILD30; primary ciliary dyskinesia 30 without situs inversus