Conditions / Syndrome
primary ciliary dyskinesia 44
info · Syndrome
A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or co
A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1.
Signs and symptoms
- Bronchiectasis
- Recurrent sinusitis
- Reduced forced expiratory volume in one second
- Reduced forced vital capacity
- Otitis media
- Neonatal respiratory distress
- Heterotaxy
- Decreased nasal nitric oxide
- Abnormal sweat electrolytes
Also known as: CILD44; primary ciliary dyskinesia 44 without situs inversus