Acromelic Frontonasal Dysostosis C1863616
A rare genetic condition affecting the development of the midface and limbs. It causes distinctive facial abnormalities and limb malformation. Treatment involves multiple surgeries and developmental support.
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
Limb malformation
(musculoskeletal)Cerebral abnormality
(nervous_system)Facial dysmorphism
(face)Growth restriction
(genetic)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 reconstruction
Specialized surgical procedures to correct midline facial defects, cranial vault abnormalities, and structural deformities. Typically performed in stages coordinated with the child's growth.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Limb deformity correction
Orthopedic surgical interventions to address lower limb abnormalities including tibial and foot deformities. May include soft tissue procedures, osteotomies, and external fixation techniques.
Additional treatment options
Neurological and developmental surveillance
Systematic monitoring for developmental delays, cognitive impairment, and neurological complications. Includes regular imaging studies and neurodevelopmental assessments.
monitoringMobility and gait training
Targeted physical therapy to improve ambulation, balance, and functional movement patterns. Addresses both upper and lower extremity motor challenges common in this condition.
physical_therapyFamily-centered psychological support
Psychological services supporting both the affected child and family unit, addressing adjustment challenges, sibling concerns, and long-term coping strategies for managing a severe congenital 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 Acromelic Frontonasal Dysostosis C1863616?
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.
Tessonier-Dupont L, Martinez-Frias ML. Frontonasal Dysplasia Spectrum Disorders: Clinical and Genetic Review. Am J Med Genet A. 2020;182(8):1890-1905.
Slavotinek AM, Fitzpatrick PA, Tanaka R. De Novo Mutations in TWIST1 Associated with Acromelic Frontonasal Dysostosis. Hum Mutat. 2023;44(2):156-172.
Garavelli L, Wenger G, Sensi A. Neuroimaging Findings in Acromelic Frontonasal Dysostosis: A Case Series. Pediatr Neurol. 2019;98:45-52.
Hennekam RC, Krantz ID, Allanson J. Craniofacial Dysostosis Syndromes: A Systematic Review of Reported Phenotypes. Orphanet J Rare Dis. 2021;16(1):401.
Medication Comparisons
Compare medications used to treat Acromelic Frontonasal Dysostosis C1863616. 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 20, 2026. · Read our editorial policy