Conditions / Syndrome
primary ciliary dyskinesia 11
info · Syndrome · ICD-10: Q34.8
A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_mate
A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.
Signs and symptoms
- Reduced sperm motility
- Abnormal central microtubular pair morphology of respiratory motile cilia
- Immotile cilia
- Chronic rhinitis
- Recurrent sinusitis
- Decreased nasal nitric oxide
- Bronchiectasis
- Short stature
- Ciliary dyskinesia
- Recurrent respiratory infections
Also known as: CILD11; primary ciliary dyskinesia 11 without situs inversus