Choanal Atresia: Symptoms, Types, Causes and Treatment

Choanal atresia is a congenital condition that blocks the back of the nasal passage, disrupting normal airflow from the nose to the throat. While rare, it is the most common nasal abnormality in newborns and can be life-threatening, especially when both sides of the nose are obstructed. In this article, we’ll explore the key symptoms, different types, underlying causes, and the modern approaches to treatment, using insights from scientific research and clinical experience.

Symptoms of Choanal Atresia

When it comes to choanal atresia, recognizing the symptoms early can be lifesaving—especially in newborns. Symptoms vary depending on whether one or both sides of the nose are blocked, and the age at which the condition is diagnosed. Some signs are subtle and may go unnoticed for years, while others, like severe breathing difficulty at birth, are dramatic and demand immediate attention.

Symptom	Description	Typical Age/Onset	Source(s)
Nasal Obstruction	Blocked nasal breathing, persistent stuffiness	Newborns, children, adults	2 3 5
Cyanosis	Bluish skin (from low oxygen) worsening with feeding	Newborns	2 4
Respiratory Distress	Difficulty breathing, especially when feeding or at rest	Newborns (bilateral)	2 4 3
Unilateral Rhinorrhea	Persistent, one-sided nasal discharge	Children, adults (unilateral)	2 3 5
Sleep Disturbance	Trouble sleeping, especially with infections	All ages	2 3
Feeding Problems	Difficulty feeding, choking, or asphyxia	Newborns (bilateral)	2 4
Fatigue	Chronic tiredness (sometimes in adults)	Adults (unilateral)	5

Table 1: Key Symptoms

Symptom Breakdown

Bilateral vs. Unilateral Presentation

• Bilateral choanal atresia is a neonatal emergency. Because newborns are obligate nasal breathers, complete blockage of both nasal passages leads to:

  • Severe respiratory distress soon after birth
  • Cyanosis (bluish skin), which worsens when feeding or at rest and improves when crying (since crying opens the mouth for breathing)
  • Feeding difficulties, as infants cannot breathe and suckle simultaneously
  • Potential for asphyxiation if not promptly recognized 2 4 3.

• Unilateral choanal atresia is subtler:

  • Chronic, one-sided nasal obstruction or discharge (rhinorrhea)
  • Recurrent infections or sinus issues on the affected side
  • Snoring or sleep disturbances
  • In rare, undiagnosed cases, symptoms may persist into adulthood as chronic fatigue or subtle breathing difficulty 2 3 5.

Additional Symptoms

Other reported symptoms include:

• Disturbed sleep, especially with upper respiratory infections 2 3
• Poor weight gain or feeding failure in infants 2
• Associated anomalies, such as cardiac defects, may be present in some cases 3 7 9

Clinical Course

• Even after surgical repair, some patients may continue to experience residual nasal symptoms, though many improve over time 1.
• Symptoms can be exacerbated by other nasal obstructions or infections 1 2.

Types of Choanal Atresia

Choanal atresia is not a one-size-fits-all condition. It varies in laterality (affecting one or both sides), composition (bony, membranous, or mixed), and completeness. Understanding these types is key for diagnosis and treatment.

Type	Description	Prevalence/Features	Source(s)
Bilateral	Both nasal passages blocked	Neonatal emergency, severe	2 4 7
Unilateral	One nasal passage blocked	More common, subtle	2 3 5 7
Bony	Blockage made of bone	Less common than mixed	6
Mixed Bony-Membranous	Both bone and membrane components	Most common (71%)	6
Pure Membranous	Blockage made only of membrane	Very rare	6

Table 2: Types of Choanal Atresia

Detailed Exploration of Types

Laterality: Bilateral vs. Unilateral

• Bilateral atresia:
  • Accounts for about 40–50% of cases 7
  • Presents at birth due to immediate and severe symptoms 2 4
• Unilateral atresia:
  • More common overall 3 7
  • Often diagnosed later in childhood or even adulthood 5
  • Right-sided atresia is more frequent than left 3

Anatomic Composition

• Bony atresia: Historically thought to be most common, but recent studies show only about 29% are pure bony 6
• Mixed bony-membranous: Represents about 71% of cases—most blockages have both bone and membranous tissue 6
• Pure membranous atresia: Extremely rare 6

Associated Anomalies

• Choanal atresia may be isolated or part of syndromes, most notably CHARGE association (Coloboma, Heart defects, Atresia choanae, Retarded growth, Genitourinary anomalies, Ear anomalies) 7 9.

Causes of Choanal Atresia

While the exact cause of choanal atresia remains a topic of scientific debate, advances in embryology and genetics offer insights into potential risk factors and mechanisms.

Cause/Factor	Description	Evidence/Notes	Source(s)
Embryologic Error	Failure of nasal passage recanalization	Primary mechanism	3 10 14
Neural Crest Cell Migration	Misdirection of mesoderm from neural crest cells	Embryologic theory	10 12
Genetic/Syndromic	CHARGE association, other anomalies	Syndromic link	7 9
Maternal Factors	Vitamin/mineral intake, thyroid meds, smoking	Epidemiological associations	11
Sporadic	No family history in most cases	Most cases are isolated	2 11

Table 3: Causes and Risk Factors

In-Depth Look at Causes

Embryologic Origins

• Choanal atresia develops due to failed or incomplete recanalization of the nasal fossae during fetal development 3 10 14.
• Historically, persistence of the nasobuccal membrane was blamed, but newer theories suggest misdirection of neural crest-derived mesodermal cells 10 12.
• The exact stage and trigger of this developmental error remains uncertain.

Genetic and Syndromic Links

• Many cases are isolated, with no clear family history or genetic pattern 2.
• However, choanal atresia can occur as part of CHARGE association, which involves multiple organ systems (coloboma, heart defects, growth retardation, genital and ear anomalies) 7 9.
• Other, less common syndromic associations and anomalies have been reported 7.

Environmental and Maternal Risk Factors

• The National Birth Defects Prevention Study reported associations with high maternal intake of vitamin B12, zinc, niacin, low methionine and vitamin D, use of thyroid medications, cigarette smoking, and high coffee consumption during the periconceptional period 11.
• These findings are suggestive but not conclusive, and further research is needed to confirm any direct causative role 11.
• Most cases remain sporadic, with no identifiable environmental or hereditary risk 2 11.

Additional Notes

• No consistent evidence links choanal atresia to specific maternal illnesses, medications, or exposures beyond the associations noted above 11.
• The vast majority of cases are not familial 2.

Treatment of Choanal Atresia

Treatment for choanal atresia is primarily surgical, with the urgency and approach tailored to the type, severity, and age of the patient. Advances in endoscopic surgery have improved outcomes and reduced complications, but challenges remain.

Treatment	Description	Outcome/Notes	Source(s)
Emergency Airway	Oral airway, intubation, feeding tube	Stabilizes neonates	3 4 12
Transnasal Endoscopic Surgery	Minimally invasive, uses endoscope	Preferred for most patients	3 13 12
Transpalatal Surgery	Through the palate, for complex cases	Good access but more invasive	10 13 17
Stenting	Tube to keep airway open post-surgery	Reduces restenosis risk	3 17
Mitomycin C	Topical agent to prevent scar formation	Adjunct—efficacy debated	3 5 12
Delayed vs. Immediate Surgery	Timing based on severity/type	Immediate preferred in bilateral	16

Table 4: Treatment Approaches

Treatment Approaches Explained

Emergency Stabilization

• Bilateral atresia in newborns is a medical emergency.
  • Immediate airway management (oral airway, intubation, oropharyngeal tube) is essential until surgery can be performed 3 4.
  • Feeding tubes may be needed to ensure nutrition while avoiding aspiration 4.

Surgical Correction

• Transnasal endoscopic repair is now the preferred method for most cases:

  • It is minimally invasive and allows precise removal of the obstruction with good visualization 3 13 12.
  • Suitable for both children and adults.
  • Lower risk of trauma and faster recovery compared to older techniques.

• Transpalatal approach:

  • May be used in complex or recurrent cases, especially if access is limited or anatomy is abnormal 10 13 17.
  • More invasive, with longer recovery.

Postoperative Care

• Stenting: A tube or stent may be placed to keep the new airway open and reduce the risk of restenosis (re-closure) 3 17.
  • Duration varies, often several weeks.
• Mitomycin C: Some surgeons apply this anti-scarring agent to reduce restenosis, but evidence of benefit is mixed 3 5 12.

Timing and Outcomes

• Immediate surgery is critical in bilateral cases; delayed surgery is associated with higher failure rates and prolonged symptoms 16.
• Unilateral cases may be managed electively, depending on symptom severity 16.

Long-Term Outcomes

• Most patients experience improved breathing and quality of life after surgery.
• Restenosis remains a challenge, especially in earlier techniques without stents or adjunct therapies 17.
• Regular follow-up with nasal endoscopy is needed to assess for recurrence 3.

Controversies and Research Gaps

• No randomized controlled trials definitively establish a superior surgical technique; much depends on surgeon preference and patient factors 15.
• Use of stents and mitomycin C remains debated 12 5.
• Ongoing research focuses on minimizing trauma, scarring, and recurrence with advanced endoscopic tools 12.

Conclusion

Choanal atresia, though rare, is a critical condition for newborns and a potentially overlooked cause of chronic nasal symptoms in older children and adults. Early recognition and prompt intervention dramatically improve outcomes. Here’s a summary of the key points:

• Symptoms: Range from life-threatening respiratory distress at birth (bilateral) to subtle, chronic nasal obstruction (unilateral), with possible feeding problems and fatigue 2 4 5.
• Types: Classified by side (bilateral/unilateral) and tissue composition (bony, mixed, membranous), with mixed types being most common 3 6.
• Causes: Stem from embryologic errors, sometimes linked to syndromes like CHARGE, but often sporadic; some maternal factors may play a role 10 7 9 11.
• Treatment: Is surgical, with endoscopic transnasal repair now standard; emergency airway management is vital in newborns. Stenting and adjunct therapies may help reduce recurrence, but optimal strategies remain debated 3 13 12 15 16.

In summary:

• Recognize symptoms promptly—especially in newborns with respiratory distress.
• Diagnosis relies on imaging and endoscopy.
• Surgical repair is highly effective, but careful follow-up is essential to maintain airway patency.
• Research continues to refine surgical techniques and understand the underlying causes.

Early diagnosis and modern surgical care have transformed the outlook for patients with choanal atresia, offering relief and a normal quality of life for most.