Children's Hospital Colorado
Breathing

Primary Ciliary Dyskinesia (PCD)

We specialize in the big things, the small things and everything in between.

Best Children's Hospital by U.S. News & World Report Pulmonology 2021-2 Badge

Get Care

Would you like to learn more about us?
checked box icon Breathing Institute
Are you ready to schedule an appointment?
calendar icon Schedule an appointment
Do you have questions about your child’s condition?
Call

What is primary ciliary dyskinesia?

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired function of motile cilia (cilia that do not work properly). Cilia are tiny, hair-like structures that line the upper and lower airways to keep the lungs, sinuses and ears free of microbes and debris that can cause infection and disease. An example of a microbe is bacteria.

Normally, cilia are constantly moving to sweep germs, such as bacteria, and debris, such as dust particles, out of our airways. In persons living with PCD, cilia don't move as they should. This means the cilia do not clear microbes and debris effectively, which causes children to have recurrent or persistent infections of the lungs, sinuses and ears.

In addition to having frequent respiratory symptoms and infections, almost half of people with PCD have chest and abdominal organs that are located on the opposite side of the normal position, a condition called situs inversus. For example, the heart may be on the right side of the body instead of the left. The abnormal position of organs typically does not cause symptoms. Most symptoms are caused by PCD. Also, men are usually infertile. PCD has also been called "immotile cilia syndrome" and "Kartagener syndrome."

What causes primary ciliary dyskinesia?

PCD is a genetic disorder, meaning that it is inherited from parents. PCD is usually inherited in an "autosomal recessive" fashion, meaning an affected child inherits two copies of a mutated, faulty PCD gene – one from each parent. Parents are considered carriers because they carry one mutation but do not typically have the classic symptoms of PCD themselves.

So far, scientists and doctors have found mutations in over 40 genes that cause PCD. They will likely discover many more mutations in other genes as they learn more about the genetic basis for this rare disorder.

Who gets primary ciliary dyskinesia?

PCD affects both males and females from all racial and ethnic groups. A child can only get PCD if they inherit the faulty PCD gene from both parents.

Next steps

  • Would you like to learn more about us?

    Learn more about the Breathing Institute
  • Do you have questions about your child’s condition?

    720-777-6181
  • Are you ready to schedule an appointment?

    Schedule an appointment

Get to know our pediatric experts.

Lesley Lundberg, CPNP-PC

Lesley Lundberg, CPNP-PC

Certified Pediatric Nurse Practitioner

Patient ratings and reviews are not available Why?

Heather Moore, CPNP-PC

Heather Moore, CPNP-PC

Certified Pediatric Nurse Practitioner

Heather De Keyser, MD

Heather De Keyser, MD

Pulmonology - Pediatric, Pediatrics

Christina Papantonakis, MD

Christina Papantonakis, MD

Pulmonology - Pediatric, Pediatrics