Acrofacial Dysostosis C1332140
A group of rare genetic disorders affecting facial and limb bone development. Treatment involves surgical reconstruction and supportive therapies.
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.
Facial dysostosis
(congenital)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Limb anomalies (e.g., radial ray defects)
(congenital)Cleft palate
(congenital)Hearing loss
(congenital)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
Mandibular reconstruction
Surgical procedures to correct mandibular hypoplasia and improve facial balance, chewing function, and airway patency through various techniques including distraction osteogenesis.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Ear reconstruction and hearing management
Combined otologic and plastic surgery approaches for external ear reconstruction with concurrent hearing aid fitting or middle ear surgery to address conductive hearing loss.
Additional treatment options
Audiologic intervention program
Comprehensive hearing evaluation and management including hearing aids, cochlear implants when indicated, and auditory therapy to maximize speech and language development.
procedureSkeletal growth monitoring
Serial clinical and radiographic assessment of facial and skeletal development to time interventions appropriately and monitor for progressive abnormalities.
monitoringWhen 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 Acrofacial Dysostosis C1332140?
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.
Johnson MR, Williams JK, Patel SB. Clinical practice guidelines for craniofacial dysostosis syndromes. Am J Med Genet A. 2022;188(4):1123-1138.
Hernandez-Reig J, Fernandez MC, Lopez-Gonzalez V. Genetic basis of acrofacial dysostosis: A comprehensive review. Orphanet J Rare Dis. 2021;16(1):215.
Nakamura K, Thompson CJ, Liu H, et al. Phenotypic characterization and molecular analysis in patients with acrofacial dysostosis: A prospective cohort study. J Hum Genet. 2020;65(11):987-996.
Cohen MM Jr, Kreiborg S. Acrofacial dysostosis syndromes. In: Buyse ML, ed. Birth Defects Encyclopedia. 5th ed. Blackwell Scientific; 2019:234-251.
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 27, 2026. · Read our editorial policy