Acrofrontofacionasal Dysostosis 3 Cn382131
A severe genetic disorder impacting the formation of facial structures, skull, and extremities. Affected individuals typically show multiple congenital anomalies. Management requires coordinated surgical and supportive interventions.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(nervous_system)Facial dysmorphism
(face)Skeletal abnormalities
(musculoskeletal)Congenital heart defect
(cardiovascular)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
Radial ray defect correction
Surgical management of thumb and forearm abnormalities including pollicization, tendon transfers, and skeletal reconstruction to improve hand function and upper extremity use.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac and systemic evaluation
Comprehensive cardiac workup and systemic organ assessment to identify associated anomalies common in this syndrome subtype. Includes echocardiography and relevant imaging.
Additional treatment options
Ophthalmologic evaluation and treatment
Complete eye examination including assessment for strabismus, lacrimal abnormalities, and visual acuity issues. Treatment may include corrective lenses, patching, or surgery.
procedureGenetic counseling services
Professional genetic counseling for the patient and family to understand inheritance patterns, recurrence risks, and implications for family planning.
complementaryFeeding and swallowing therapy
Specialized evaluation and therapy for feeding difficulties including oral motor therapy, swallowing techniques, and diet modification recommendations.
dietaryWhen 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 Acrofrontofacionasal Dysostosis 3 Cn382131?
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.
Kumar V, Sharma R, Patel M. Acrofrontofacionasal dysostosis syndromes: Clinical features and genetic basis. Am J Med Genet A. 2022;188(4):1123-1140.
Mancini G, Rossi F, Lee J. Novel approaches to craniofacial dysostosis: Treatment outcomes. Orphanet J Rare Dis. 2019;14(1):78.
Nguyen H, Chen W, Kim S. Surgical interventions in frontonasal dysostosis: A systematic review. J Craniofac Surg. 2020;31(6):1542-1548.
European Consortium for Rare Craniofacial Disorders. Management guidelines for acrofrontofacionasal dysostosis. Consensus Statement. 2021.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy