Conditions / Syndrome
primary ciliary dyskinesia 21
info · Syndrome · ICD-10: Q34.8
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.
Signs and symptoms
- Decreased nasal nitric oxide
- Recurrent otitis media
- Recurrent pneumonia
- Ciliary dyskinesia
- Chronic sinusitis
- Bronchiectasis
- Atelectasis
- Neonatal respiratory distress
Also known as: CILD21; primary ciliary dyskinesia 21 without situs inversus