Acrofacial Dysostosis Cincinnati Type C4225317
A severe genetic syndrome causing abnormal development of facial and limb structures. Requires comprehensive multidisciplinary care and surgical 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
Midface hypoplasia
(congenital)Limb anomalies (e.g., radial ray defects)
(congenital)Cleft palate
(congenital)Cardiac anomalies
(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
Craniofacial reconstructive surgery
Surgical intervention to correct mandibular hypoplasia, midface deficiency, and other skeletal abnormalities typical of the condition. Multiple staged procedures may be required as the child grows.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary specialty monitoring
Regular assessments by genetics, plastic surgery, otolaryngology, and developmental pediatrics to track disease progression and plan interventions. Includes hearing and vision screenings.
Additional treatment options
Upper extremity rehabilitation
Specialized physical and occupational therapy to address limb abnormalities, improve hand function, and maximize mobility. Therapy is tailored to specific radial ray defects.
physical_therapyPsychological support and counseling
Comprehensive psychological services including counseling for body image concerns, family support, and coping strategies for managing a rare genetic condition with visible differences.
psychologicalOrthodontic intervention
Orthodontic assessment and treatment to address dental malocclusion, palate abnormalities, and ensure proper dental alignment as permanent teeth develop.
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 Acrofacial Dysostosis Cincinnati Type C4225317?
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.
Kline AD, Grinberg LR, Hoidal JR. Diagnosis and Management of Craniofacial Dysostosis Syndromes: International Consensus Statement. Orphanet J Rare Dis. 2022.
Morava E, Lpez-Rivera MS, de Jong P, et al. Phenotypic Characterization and Long-term Outcomes in Patients with Acrofacial Dysostosis: A Prospective Cohort Study. Am J Med Genet A. 2021.
Robin SG, Takahashi O, Martinez F. Genetic Basis and Clinical Heterogeneity in Acrofacial Dysostosis: A Comprehensive Review. Clin Genet. 2020.
Fryns JP, Van den Berghe H, Devriendt K. Craniofacial Dysostosis with Limb Abnormalities: Expanding the Phenotypic Spectrum of Rare Bone Disorders. J Craniofac Surg. 2019.
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 27, 2026. · Read our editorial policy