Conditions / Syndrome

primary ciliary dyskinesia 2

info · Syndrome · ICD-10: Q34.8

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_materia

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.

Signs and symptoms

  • Situs inversus totalis
  • Dextrocardia
  • Respiratory distress
  • Bronchiectasis
  • Nasal polyposis
  • Absent inner and outer dynein arms
  • Ciliary dyskinesia
  • Immotile cilia
  • Infertility
  • Sinusitis

Also known as: CILD2; primary ciliary dyskinesia 2 with or without situs inversus