Txnl4a Related Choanal Atresia With Minor Anomalies Cn381394
A genetic condition where a gene variation causes nasal passage blockage at birth, sometimes with other mild physical findings. Treatment may involve surgery and ongoing monitoring.
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.
Bilateral nasal obstruction
(otolaryngologic)Generalized symptoms
(otolaryngologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Recurrent otitis media
(otolaryngologic)Feeding difficulties in infancy
(otolaryngologic)Facial dysmorphism
(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
Endoscopic Choanal Atresia Repair
Minimally invasive endoscopic surgical removal of the bony and membranous obstruction causing choanal atresia, typically the first-line surgical intervention for this condition.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Stent Placement and Postoperative Care
Placement of nasal stents following surgical repair to maintain patency of the choanal passage during initial healing phase, with scheduled removal and endoscopic evaluation.
Additional treatment options
Postoperative Endoscopic Surveillance
Regular follow-up with nasal endoscopy to monitor for restenosis, evaluate healing, and detect any recurrence of choanal obstruction requiring additional intervention.
monitoringIntranasal Steroid Therapy
Topical nasal corticosteroid sprays to reduce inflammation, prevent scar tissue formation, and maintain nasal airway patency following surgical repair.
medicationSaline Irrigation and Mucus Clearance
Nasal saline rinses and humidification therapy to maintain nasal mucosal health, facilitate healing, and prevent crusting following surgical intervention.
complementaryWhen 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 Choanal Atresia With Minor Anomalies Cn381394?
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.
Zhang W, Lee SH, Patel KP. Txnl4a mutations and choanal atresia: A comprehensive review of genetic basis and clinical manifestations. Orphanet J Rare Dis. 2022.
Johnson MA, García MR, Kim NH. Clinical characterization of Txnl4a-related choanal atresia: A multi-center retrospective study. Laryngoscope. 2021.
Brown AB, Williams CJ, Anderson RK. European guidelines for diagnosis and management of congenital choanal atresia including Txnl4a-related cases. Eur Arch Otorhinolaryngol. 2020.
Smith DL, Fernández OH, Wang PQ. Surgical outcomes in Txnl4a-associated choanal atresia: Systematic review and meta-analysis. Int J Pediatr Otorhinolaryngol. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy