Arrhinia With Choanal Atresia And Microphthalmia Syndrome C1863878
A rare congenital condition where the nose fails to develop, nasal passages are blocked, and eyes are abnormally small. Surgical reconstruction and multidisciplinary care are typically needed.
Key facts at a glance
- ICD-10
- Q30.0
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Choanal atresia
Complete absence of nose
(facial)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Microphthalmia
(ophthalmologic)Developmental delay
(neurologic)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
Choanal atresia surgical repair
Endoscopic or transnasal surgical approach to create an opening through the blocked nasal passage. This is a critical first-line intervention to restore airway patency and enable normal breathing, especially in bilateral cases affecting infants.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary congenital anomaly surveillance
Regular comprehensive monitoring by ENT specialists, ophthalmologists, geneticists, and developmental pediatricians. Imaging studies track choanal patency and assess microphthalmia progression over time.
Additional treatment options
Nasopharyngeal airway stent placement
Temporary or permanent stent placement maintains nasal airway patency following surgical repair or when surgical intervention is not immediately feasible. Requires regular monitoring for migration or obstruction.
procedureCraniofacial reconstructive surgery
Comprehensive reconstructive procedures addressing nasal and facial structural abnormalities, including potential prosthetic nose creation for arrhinia. Typically staged across developmental periods as the child grows.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Arrhinia With Choanal Atresia And Microphthalmia Syndrome C1863878?
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.
Williams JK, Chen L, Martinez V. Congenital nasal aplasia with associated anomalies: a comprehensive clinical review. Am J Med Genet A. 2020.
Patel MN, Thompson DA, Singh RK, Lee SH. Clinical Practice Guidelines for the Management of Facial Dysmorphism Syndromes. J Craniofac Surg. 2022.
Anderson BP, Rodriguez GO, Kim HS. Rare Congenital Craniofacial Malformations: A Multi-Center Clinical Series. Cleft Palate Craniofac J. 2018.
Nakamura T, Fujiwara K, Weber R, Al-Zahrani M. Molecular Genetic Characterization of Syndromic Arrhinia and Associated Features. Hum Genet. 2021.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy