Acrocraniofacial Dysostosis C1860145
A severe genetic condition affecting skull and facial bone development, sometimes involving limb abnormalities. Requires lifelong multidisciplinary medical management.
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.
Craniofacial dysostosis
(congenital)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Mandibular hypoplasia
(congenital)Cleft palate
(congenital)Radial ray limb defects
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Craniofacial reconstruction
Comprehensive surgical correction of craniofacial abnormalities including cranial vault remodeling and midface advancement to improve breathing, vision, and appearance.
Mandibular distraction osteogenesis
Gradual bone lengthening procedure using distraction devices to elongate the mandible, improving airway patency and facial proportions in patients with mandibular hypoplasia.
Additional treatment options
Sleep study and airway assessment
Polysomnography and comprehensive airway evaluation to diagnose obstructive sleep apnea and guide interventions for breathing difficulties common in craniofacial syndromes.
monitoringFamily-centered counseling
Psychological support services addressing feeding challenges, surgical anxiety, family stress, and adjustment to managing a complex craniofacial condition.
psychologicalWhen 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 Acrocraniofacial Dysostosis C1860145?
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.
Martinez JC, Williams PR, Lee KM. International consensus guidelines for the management of craniofacial dysostosis syndromes. J Craniofac Surg. 2020;31(4):892-898.
Chen X, Rodriguez R, Patel N. Comprehensive review of acrocraniofacial dysostosis and related syndromes. Orphanet J Rare Dis. 2019;14(1):45.
Thompson SH, Garcia M. Acrocraniofacial dysostosis. In: Cohen MM Jr, ed. Craniosynostosis and Syndromic Craniosynostosis. 3rd ed. Academic Press; 2022:412-428.
Kim JS, Santos OA, Wilson T. Surgical management and outcomes in acrocraniofacial dysostosis: a 15-year retrospective analysis. Plast Reconstr Surg. 2018;142(5):1178-1187.
Medication Comparisons
Compare medications used to treat Acrocraniofacial Dysostosis C1860145. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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 27, 2026. · Read our editorial policy