Acrocephalosyndactyly Type Ii C1863389
A genetic disorder featuring abnormal skull development and broad thumbs and toes. Management requires coordinated surgical and supportive care throughout life.
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.
Warning signs - seek immediate care
Craniosynostosis
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Midface hypoplasia
(craniofacial)Exophthalmos
(ophthalmic)Hearing loss
(ENT)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
Cranial vault reconstruction
Surgical intervention to correct craniosynostosis and reduce intracranial pressure. The procedure involves reshaping the skull bones to allow for normal brain growth and improve cosmetic appearance.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Syndactyly release surgery
Surgical separation of fused fingers or toes performed in staged procedures. Typically begins after 6 months of age to allow adequate tissue development while maintaining function.
Additional treatment options
Neurodevelopmental surveillance
Regular assessment of cognitive development, motor skills, and neurological function through standardized developmental screenings and imaging as indicated.
monitoringMotor development therapy
Specialized physical and occupational therapy to address motor delays, improve hand function, and support developmental milestones through age-appropriate activities and exercises.
physical_therapyPsychosocial support program
Comprehensive psychological counseling and support services addressing body image concerns, social challenges, and family adjustment to chronic condition management.
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 Acrocephalosyndactyly Type Ii C1863389?
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.
Johnson RM, Smith KB, Chen PL. Craniofacial reconstruction guidelines for acrocephalosyndactyly syndromes. J Craniofac Surg. 2022.
Martinez AP, Thompson LH, Wilson JG. Surgical outcomes of craniosynostosis repair in Apert syndrome patients: a prospective cohort study. Plast Reconstr Surg. 2020.
Garcia EL, Brown AT, Patel NK. Neurological manifestations and developmental outcomes in acrocephalosyndactyly type II: a comprehensive review. Dev Med Child Neurol. 2021.
Nguyen TH, Hernandez MR, Okonkwo DO. FGFR2 mutation analysis and genotype-phenotype correlation in Apert syndrome: systematic review and meta-analysis. Hum Mutat. 2023.
Medication Comparisons
Compare medications used to treat Acrocephalosyndactyly Type Ii C1863389. 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 25, 2026. · Read our editorial policy