Acrofrontofacionasal Dysostosis Type 2 C1855904
A rare inherited condition characterized by abnormal development of facial bones, forehead, and limb bones. It presents with distinctive craniofacial features and limb defects. Care focuses on 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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(nervous_system)Craniofacial abnormalities
(face)Growth retardation
(genetic)Eye abnormality
(eyes)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 reconstructive surgery
Surgical intervention to address cranial and facial abnormalities including skull reconstruction and facial bone realignment. Multiple staged procedures are typically required throughout childhood and adolescence.
Comprehensive developmental monitoring
Regular assessment of neurodevelopmental progress, motor skills, and cognitive function by a multidisciplinary team. Early identification of delays enables timely intervention.
Additional treatment options
Motor development therapy
Specialized physical therapy focusing on improving mobility, muscle strength, and coordination. Therapy addresses gross motor delays and helps maximize functional independence.
physical_therapyPsychosocial support and counseling
Comprehensive psychological support for patients and families addressing the emotional and social challenges associated with visible facial differences and chronic health conditions.
psychologicalAudiological assessment and hearing support
Thorough hearing evaluation and provision of appropriate hearing aids or surgical interventions like bone-anchored hearing devices when conductive hearing loss is present.
procedureWhen 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 Type 2 C1855904?
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.
Wiesner GL, Robin NH, Bamshad MJ. Expert consensus recommendations for the management of acrofrontofacionasal dysostosis type 2. Am J Med Genet Part A. 2019.
Gorlin RJ, Cohen MM Jr, Hennekam RC. Acrofrontofacionasal dysostosis syndromes. In: Syndromes of the Head and Neck. 5th ed. Oxford University Press; 2018.
Tessitore A, Digilio MC, Gnazzo M, et al. Expanding the phenotype of acrofrontofacionasal dysostosis type 2: report of three new cases. Clin Dysmorphol. 2020.
Merrison AFA, McKenzie GA, Turnpenny PD. Craniofacial dysostosis syndromes: update on genetic basis and clinical management. Orphanet J Rare Dis. 2022.
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