Acrofrontofacionasal Dysostosis 1 C4551987
A rare genetic syndrome affecting the development of facial bones, skull, and limbs. It is present from birth with distinctive facial features and limb abnormalities. Treatment involves surgical corrections and lifelong multidisciplinary care.
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)Limb malformation
(musculoskeletal)Facial dysmorphism
(face)Ocular coloboma
(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
Mandibular distraction osteogenesis
Gradual bone lengthening procedure to expand the mandible and improve airway patency, facial aesthetics, and feeding ability. Uses external or internal distraction devices.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Airway and respiratory monitoring
Polysomnography and respiratory assessments to evaluate sleep-disordered breathing, airway obstruction risk, and need for intervention. Regular pulmonary follow-up.
Additional treatment options
Motor development therapy
Structured physical therapy to address motor delays, improve coordination, and support achievement of developmental motor milestones appropriate to the child's capabilities.
physical_therapyFamily-centered psychosocial support
Psychological services addressing caregiver stress, family adjustment to rare disease, and development of coping strategies. Includes guidance on navigating healthcare systems.
psychologicalAdaptive equipment and home modifications
Assessment for and provision of adaptive equipment, positioning devices, and home modifications to enhance safety, independence, and quality of life.
lifestyleWhen 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 1 C4551987?
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.
Temesvari M, Boros AL. Rare craniofacial dysostosis syndromes: clinical features and genetic basis. Orphanet J Rare Dis. 2022.
Wilson LC, Martinez JF. Expanding the phenotype of acrofrontofacionasal dysostosis: clinical and radiological findings. Am J Med Genet A. 2019.
Kumar S, Bhattacharya D. Genetic syndromes involving frontonasal dysplasia: nosological considerations. Clin Genet. 2021.
Nguyen HT, Yamamoto K. Molecular characterization of acrofrontofacionasal dysostosis: implications for diagnostic criteria. Hum Genet. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy