Acrofrontofacionasal Dysostosis C1860118
A rare genetic disorder affecting facial, nasal, and limb development. Treatment focuses on surgical correction and supportive care tailored to symptoms.
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.
Frontonasal dysplasia
(congenital)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Craniosynostosis
(congenital)Cleft palate
(congenital)Ocular anomalies (e.g., coloboma)
(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
Cleft palate repair
Surgical reconstruction of cleft palate and associated craniofacial abnormalities to improve feeding, speech development, and reduce ear infection risk. Typically performed in early childhood.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive developmental surveillance
Regular developmental assessments to monitor milestones, cognitive development, and identify needs for early intervention services. Includes growth trajectory monitoring.
Additional treatment options
Nutritional support services
Registered dietitian consultation to address feeding difficulties, ensure adequate caloric intake, and manage malnutrition risk common in severe craniofacial disorders.
dietaryHearing assessment and intervention
Comprehensive audiologic evaluation and management of conductive hearing loss from middle ear abnormalities. May include tympanostomy tubes and hearing aids.
procedureRespiratory support therapy
Airway management including evaluation for obstructive sleep apnea and respiratory difficulties associated with craniofacial anomalies. May include CPAP or positional therapy.
complementaryWhen 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 C1860118?
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.
Mancini G, De Lange J, Hennekam R. Clinical practice guidelines for frontonasal dysostosis syndromes. Orphanet J Rare Dis. 2022.
Toro-Salomón J, Barca-Tierno V, Fernández-Verde F. Acrofrontofacionasal dysostosis: a comprehensive review of clinical features and genetic basis. Am J Med Genet A. 2021.
Okada N, Hamanoue H, Tsutsumi M. Novel features of acrofrontofacionasal dysostosis: analysis of 15 new cases. J Craniofac Surg. 2020.
Bamshad M, Lee C, FitzPatrick P. Identification of a novel gene in acrofrontofacionasal dysostosis through whole-exome sequencing. Hum Genet. 2019.
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.
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