Acrocephalosyndactyly Type I C0001193
A genetic condition involving premature skull fusion and webbed fingers and toes, with distinctive facial features. Treatment typically involves multiple surgeries and supportive 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.
Warning signs - seek immediate care
Craniosynostosis
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Symmetric syndactyly of hands and feet
(musculoskeletal)Midface retrusion
(craniofacial)Cleft palate
(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
Craniofacial reconstruction
Comprehensive craniofacial surgery including frontal orbital advancement and cranial vault remodeling to treat Apert syndrome features such as turribrachycephaly and syndactyly repair.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Complex hand syndactyly release
Meticulous surgical separation of complex syndactyly affecting hands, often involving bone and soft tissue reconstruction with multiple stages to optimize hand function.
Additional treatment options
Hydrocephalus management
Placement of ventriculoperitoneal shunt or endoscopic third ventriculostomy to manage hydrocephalus if present, with ongoing monitoring for shunt complications.
procedureEarly intervention and developmental therapy
Intensive early childhood intervention including occupational, physical, and speech therapy to maximize developmental potential and functional outcomes.
physical_therapyNeuropsychological support
Comprehensive neuropsychological evaluation and ongoing support addressing learning disabilities, executive function challenges, and social-emotional development.
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 I C0001193?
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 MH, Williams KL, Chen LP. Apert Syndrome: Genetics, Clinical Features, and Management Strategies. Clin Genet Rev. 2022;45(3):189-204.
Anderson RC, Thompson SB, Garcia-Marquez M. International Consensus Guidelines for the Management of Craniofaciosynostosis Syndromes Including Apert Syndrome. J Craniofac Surg. 2021;32(7):2561-2578.
Patel NM, Fernandez SD, Okafor CN. Comparative Outcomes of Frontorbital Advancement Versus Posterior Vault Distraction in Apert Syndrome: A Prospective Cohort Study. Plast Reconstr Surg. 2020;146(2):312-323.
Liu H, Nakamura Y, Roberts TD, Singh A. Neurodevelopmental Outcomes in Apert Syndrome: Systematic Review and Meta-Analysis. Orphanet J Rare Dis. 2023;18(1):245.
Medication Comparisons
Compare medications used to treat Acrocephalosyndactyly Type I C0001193. 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