Conditions / Syndrome

primary ciliary dyskinesia 29

info · Syndrome · ICD-10: Q34.8

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chro

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.

Signs and symptoms

  • Bronchiectasis
  • Infertility
  • Decreased nasal nitric oxide
  • Recurrent respiratory infections
  • Ciliary dyskinesia
  • Atelectasis
  • Decreased circulating immunoglobulin concentration
  • Situs inversus totalis
  • Elevated sweat chloride

Also known as: CILD29; primary ciliary dyskinesia 29 without situs inversus