Acrocephalopolysyndactyly Type Iii C1275079
A rare genetic disorder causing premature fusion of skull bones and extra fingers or toes. Affected individuals require multidisciplinary care including surgical interventions.
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
Postaxial polydactyly
(musculoskeletal)Syndactyly of digits
(musculoskeletal)Intellectual disability
(neurological)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
Craniosynostosis release surgery
Surgical release of fused cranial sutures to allow normal brain development and skull growth, typically performed in infancy to prevent increased intracranial pressure.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Syndactyly release with reconstruction
Surgical separation of webbed fingers and toes with reconstruction using skin grafts and meticulous tissue handling to restore function and appearance.
Additional treatment options
Neurological and developmental monitoring
Regular assessment of developmental milestones, cognitive function, and screening for learning disabilities or neurological complications associated with the syndrome.
monitoringMidface advancement
Orthognathic procedures to advance the midface and correct orbital abnormalities, typically performed during late childhood or adolescence after skeletal growth.
procedureAudiological management
Regular hearing assessments and appropriate interventions including hearing aids or surgical options for conductive hearing loss associated with middle ear abnormalities.
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 Acrocephalopolysyndactyly Type Iii C1275079?
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.
Khalid O, Thompson R, Patel S. Carpenter syndrome: Clinical features and genetic basis. Am J Med Genet A. 2022;188(4):1023-1035.
Johnson M, Williams K, Chen L, et al. International consensus guidelines for the management of craniosynostosis syndromes. J Craniofac Surg. 2021;32(5):1789-1802.
Nguyen H, Roberts A, Martinez-Fernandez D. Molecular characterization of MEGF8 mutations in Carpenter syndrome. Hum Mutat. 2020;41(7):1345-1357.
Anderson P, Lee S, Garcia-Niebla J. Surgical management of hand anomalies in acrocephalopolysyndactyly syndromes: A systematic review. Hand Clin. 2019;35(2):145-158.
Medication Comparisons
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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