Symptoms
Common signs and symptoms of Choanal Atresia include:
When to see a doctor
If you experience severe or worsening symptoms, seek immediate medical attention. Always consult with a healthcare professional for proper diagnosis and treatment.
Causes & Risk Factors
Several factors can contribute to Choanal Atresia.
Choanal atresia develops during early pregnancy when the nasal passages are forming in the developing fetus.
Choanal atresia develops during early pregnancy when the nasal passages are forming in the developing fetus. Between the fourth and eleventh weeks of pregnancy, the tissues that separate the nasal cavity from the mouth should naturally break down to create the choanae. When this process doesn't happen correctly, the opening remains blocked.
The exact cause of this developmental disruption isn't fully understood.
The exact cause of this developmental disruption isn't fully understood. Most cases appear to occur randomly without any identifiable trigger. However, the condition is often part of a broader pattern of birth defects, particularly CHARGE syndrome, which affects multiple organ systems including the heart, eyes, and ears.
In about 90% of cases, the blockage consists of bone, while the remaining 10% involve soft tissue or a combination of both.
In about 90% of cases, the blockage consists of bone, while the remaining 10% involve soft tissue or a combination of both. The bony type tends to be thicker and more complete, while soft tissue blockages may be partial. Research suggests that certain genetic factors and environmental influences during pregnancy might play a role, but no specific preventable causes have been identified.
Risk Factors
- Family history of CHARGE syndrome
- Genetic mutations affecting facial development
- Presence of other congenital abnormalities
- Maternal age over 35 years
- Exposure to certain medications during early pregnancy
- Female gender (twice as common in girls)
- History of other facial or nasal malformations in family
Diagnosis
How healthcare professionals diagnose Choanal Atresia:
- 1
Diagnosing choanal atresia often begins when healthcare providers notice breathing difficulties in a newborn.
Diagnosing choanal atresia often begins when healthcare providers notice breathing difficulties in a newborn. A simple initial test involves holding a small mirror under each nostril to see if air flow creates condensation. If one or both sides show no fogging, choanal atresia may be suspected. Doctors may also try gently passing a small flexible tube through each nostril to check for blockages.
- 2
The gold standard for diagnosis is a CT scan of the head and neck, which provides detailed images of the nasal passages and can distinguish between bony and soft tissue blockages.
The gold standard for diagnosis is a CT scan of the head and neck, which provides detailed images of the nasal passages and can distinguish between bony and soft tissue blockages. This imaging helps surgeons plan the most appropriate treatment approach. In some cases, nasal endoscopy may be performed, using a tiny camera to visually examine the nasal passages and confirm the diagnosis.
- 3
Since choanal atresia frequently occurs alongside other birth defects, doctors typically screen for associated conditions, particularly CHARGE syndrome.
Since choanal atresia frequently occurs alongside other birth defects, doctors typically screen for associated conditions, particularly CHARGE syndrome. This may involve hearing tests, heart examinations, eye evaluations, and genetic testing. About 60% of children with choanal atresia have additional medical issues, so comprehensive evaluation helps ensure all aspects of a child's health are addressed.
Complications
- When treated promptly, most children with choanal atresia experience excellent long-term outcomes with minimal complications.
- However, untreated bilateral choanal atresia can be life-threatening in newborns due to their dependence on nasal breathing.
- Emergency intervention prevents serious complications like respiratory failure or feeding difficulties that could impact growth and development.
- Potential surgical complications are generally rare but may include bleeding, infection, or damage to nearby structures like teeth buds in very young children.
- Some children experience temporary changes in voice or nasal resonance after surgery.
- The most common long-term concern is re-stenosis, where the surgically created opening gradually narrows again, potentially requiring additional procedures.
- This occurs in about 10-15% of cases and is more likely with bony atresia than soft tissue blockages.
Prevention
- Since choanal atresia is a congenital condition that develops during early pregnancy, there are no proven ways to prevent it.
- The condition appears to occur randomly in most cases, without identifiable environmental or lifestyle triggers that parents can control.
- General measures that support healthy fetal development may be beneficial, though they don't specifically prevent choanal atresia.
- These include taking folic acid supplements before conception and during early pregnancy, avoiding alcohol and smoking, and maintaining regular prenatal care.
- Women with a family history of CHARGE syndrome or other genetic conditions may benefit from genetic counseling before pregnancy.
- For families who have had one child with choanal atresia, the risk of recurrence in future pregnancies appears to be low unless the condition is part of a genetic syndrome.
- Prenatal ultrasounds can sometimes detect severe cases of choanal atresia, though the condition is often not visible until after birth.
- Early prenatal care and open communication with healthcare providers help ensure prompt recognition and treatment if the condition occurs.
Surgery is the primary treatment for choanal atresia, with the specific approach depending on whether the blockage is unilateral or bilateral and whether it's bony or soft tissue.
Surgery is the primary treatment for choanal atresia, with the specific approach depending on whether the blockage is unilateral or bilateral and whether it's bony or soft tissue. For bilateral cases that cause severe breathing problems, emergency surgery may be needed within hours of birth. In less urgent unilateral cases, surgery can often be scheduled when the child is older and stronger.
The most common surgical approach is transnasal endoscopic repair, where surgeons use tiny instruments and cameras inserted through the nostrils to remove the blocking tissue or bone.
The most common surgical approach is transnasal endoscopic repair, where surgeons use tiny instruments and cameras inserted through the nostrils to remove the blocking tissue or bone. This minimally invasive technique reduces trauma and recovery time compared to older methods. For bony atresia, surgeons carefully drill through the bone to create an opening, while soft tissue blockages are typically removed with specialized cutting instruments.
After surgery, stents (small tubes) are often placed in the newly created openings to prevent them from closing during healing.
After surgery, stents (small tubes) are often placed in the newly created openings to prevent them from closing during healing. These stents typically remain in place for several weeks to months, depending on the child's healing progress. Parents learn to clean and maintain the stents at home, and regular follow-up visits monitor the healing process.
Post-operative care includes nasal irrigation with saline solutions to keep passages clear and prevent infection.
Post-operative care includes nasal irrigation with saline solutions to keep passages clear and prevent infection. Most children experience significant improvement in breathing immediately after surgery, though some swelling is normal initially. Success rates for choanal atresia surgery exceed 85%, with most children achieving normal nasal breathing. In rare cases where the opening narrows again, additional procedures may be necessary.
Living With Choanal Atresia
Most children who receive successful treatment for choanal atresia go on to live completely normal lives with no ongoing breathing problems. Parents often report dramatic improvements in their child's comfort, feeding ability, and sleep quality after surgery. Regular follow-up appointments help ensure the surgical openings remain clear and functioning properly.
Latest Medical Developments
Latest medical developments are being researched.
Frequently Asked Questions
Update History
May 3, 2026v1.0.0
- Published by DiseaseDirectory