ciliary dyskinesia, primary, 38

Ciliary dyskinesia, primary, 38 is a condition that affects the respiratory system through dysfunction of small, hair-like structures called cilia. Variants in the CFAP300 gene, which is critical for normal ciliary movement, are responsible for the condition. Affected individuals typically present in infancy with symptoms such as respiratory distress and a productive cough. Although precise prevalence data is not available, the diagnosis is made in early life and treatment focuses on supportive care and symptom management.

The clinical features of ciliary dyskinesia, primary, 38 are largely related to impaired ciliary function. Key characteristics include decreased nasal nitric oxide levels, neonatal respiratory distress, immotile cilia, and absent inner and outer dynein arms, all of which are observed in nearly all affected individuals. A productive cough is also a common early presenting feature. In addition, a subset of patients may show differences in organ placement, such as situs inversus totalis or dextrocardia. Not all individuals experience every feature, and severity varies considerably.

This condition is caused by pathogenic variants in the CFAP300 gene, which plays an important role in the structure and function of cilia. When the gene does not function correctly, the cilia cannot move normally, leading to impaired clearance of mucus and debris from the respiratory tract. Ciliary dyskinesia, primary, 38 is inherited in an autosomal recessive pattern, meaning that an affected individual has inherited two mutated copies of the gene—one from each parent, who are typically unaffected carriers. Genetic counseling is recommended to help families understand recurrence risks and to support family planning. Associated genes include CFAP300.