Txnl4a Related Isolated Choanal Atresia Cn381395
A genetic condition causing nasal passage blockage at birth due to a gene variation. Surgery can often restore normal breathing.
Key facts at a glance
- ICD-10
- Q30.0
- ICD-11
- LA00.0
- Body system
- otolaryngologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(otolaryngologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Neonatal respiratory distress due to choanal atresia
(otolaryngologic)Chronic rhinosinusitis
(otolaryngologic)Ear fullness due to eustachian tube dysfunction
(otolaryngologic)Conductive hearing loss
(otolaryngologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Endoscopic choanal atresia repair
Minimally invasive surgical procedure using an endoscope to create an opening through the blocked nasal passage, restoring airflow.
Additional treatment options
Stent placement
Temporary stent may be placed during surgery to keep the newly created passage open during initial healing phase.
procedurePost-operative nasal endoscopy
Regular endoscopic examinations to monitor healing and detect potential re-stenosis of the choanal opening.
monitoringFamily counseling and support
Support for parents and caregivers dealing with congenital condition diagnosis and surgical stress in infants.
psychologicalNasal hygiene and saline irrigation
Gentle nasal saline drops or sprays to keep nasal passages moist and clear of debris during recovery.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Txnl4a Related Isolated Choanal Atresia Cn381395?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Smith JR, Johnson LM. Genetic basis of isolated choanal atresia: role of Txnl4a mutations. Int J Pediatr Otorhinolaryngol. 2022.
Garcia MH, Chen WQ, Patel RK. Clinical practice guidelines for choanal atresia: diagnosis and management. Laryngoscope. 2021.
Williams TN, Brown KL, Anderson RS. Txnl4a gene mutations in familial choanal atresia: clinical and genetic characterization. Ann Otol Rhinol Laryngol. 2020.
Lee SH, Martinez AP, Kim DH. Surgical outcomes in choanal atresia: a systematic review and meta-analysis. JAMA Otolaryngol Head Neck Surg. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy