Choanal atresia is a blockage in the back of a baby’s nose that makes it hard to breathe. It’s often seen in newborns with other birth defects, such as Treacher Collins syndrome or CHARGE syndrome.
This condition is rare, affecting about 1 out of every 7,000 babies.
There are two types of choanal atresia:
- Bilateral choanal atresia. This type blocks both nasal passages. It’s very dangerous because babies breathe only through their noses for the first four to six weeks of life.
- Unilateral choanal atresia. This type only blocks one nasal passage, often the one on the right. It’s more common than bilateral choanal atresia. Babies with this form may be able to compensate by breathing through the one open side of their nose.
Both types of choanal atresia are further categorized depending on the type of blockage:
- The blockage is made up of both bones and soft tissues. About 70% of babies with the condition have this type.
- The blockage is made up of only bones. About 30% of babies with choanal atresia have this type.
Babies born with bilateral choanal atresia have a very hard time breathing. They may only be able to breathe when they cry because it opens their airways. Feeding can also be very hard because the child can’t breathe while eating and might start to choke. Babies with bilateral choanal atresia may also turn blue while sleeping or eating because they can’t get enough oxygen.
Babies who have the unilateral form may be able to breathe well enough out of one nostril. They may not show any symptoms until months or years later.
Signs of unilateral choanal atresia include:
- noisy breathing
- thick fluid draining from one side of the nose
Choanal atresia happens in the womb when the passages in the nose don’t fully open and connect with the airway as the baby develops. Doctors don’t know exactly what causes it, but they think a combination of genes and environmental factors may be to blame.
In addition, girls are more likely to have choanal atresia than boys.
There have also been reports that women who took certain thyroid drugs, such as carbimazole and methimazole (Tapazole), during pregnancy gave birth to babies with choanal atresia at a higher rate. However, the association is not clear. It also could not be determined if the mothers’ thyroid disease might have led to the choanal atresia, or if the medications themselves were a factor.
Babies with choanal atresia often have one of these other birth defects:
- CHARGE syndrome. This inherited condition causes severe hearing loss, vision loss, breathing, and swallowing problems. More than half of children with CHARGE have choanal atresia, and about half of them have it in both sides of their nose.
- Treacher Collins syndrome. This condition affects the development of bones in a baby’s face.
- Crouzon syndrome. This genetic condition causes bones in a baby’s skull to fuse too early. This stops the skull from growing as it usually would.
- Tessier syndrome. This condition causes large openings (clefts) that divide the baby’s face.
- Coloboma. This condition is a hole in the retina, iris, or another part of the eye.
- Genital hypoplasia. This condition is the incomplete development of the vagina in girls, or the penis in boys.
The bilateral form of choanal atresia is usually diagnosed soon after a baby is born because the symptoms are severe and quickly noticeable. Most babies with bilateral choanal atresia will have significant difficulty breathing soon after birth. During an exam, the doctor won’t be able to pass a thin plastic tube from the baby’s nose into the pharynx, which is the part of the throat that’s behind the nose and mouth.
Babies with a mild form of unilateral choanal atresia may not need treatment. However, they’ll need to be closely monitored for any signs of a breathing problem. Using nasal saline spray can also help to keep the open nostril clear.
Bilateral choanal atresia is a medical emergency. Babies with this condition may need a tube to help them breathe until they can have surgery. In most cases, the doctor will try to perform surgery as soon as it’s safely possible.
The most common type of surgery used to treat this condition is endoscopy. The surgeon places a small viewing scope with small instruments attached through the baby’s nose. Then, the doctor opens up the bone and tissue that’s blocking the baby’s breathing.
Less often, the surgery is done through an open procedure. To do this, the surgeon makes a cut in the roof of the baby’s mouth and removes the blocking tissue or bone.
Following both types a surgery, a small plastic tube called a stent may be put in the hole to keep the airway open. The stent will be removed after a few weeks.
Babies with other problems, such as CHARGE syndrome, may need more surgeries to treat those conditions.
Once the blockage has been removed, the outlook for babies with choanal atresia is good. They can grow up to have normal, healthy lives. However, babies with additional birth defects may need additional treatment or surgeries as they grow up.
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