Craniosynostosis Intellectual Disability Syndrome Of 51n And Gettig C1857473
A rare genetic syndrome combining premature skull fusion with developmental delay. Affected individuals need lifelong developmental and medical support.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Increased intracranial pressure (headache)
Craniosynostosis
(musculoskeletal)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Facial dysmorphism
(head_and_neck)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 remodeling surgery
Surgical intervention to release fused skull sutures and reshape the cranial structure, allowing for normal brain growth and development. This procedure is typically performed in early childhood when craniosynostosis is identified.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Structured motor development program targeting muscle tone, coordination, and gross motor skills affected by the syndrome. Therapy focuses on age-appropriate developmental milestones.
Additional treatment options
Cognitive and behavioral support
Individualized educational and behavioral interventions addressing intellectual disability through structured learning programs and skill-building activities tailored to developmental level.
psychologicalMultidisciplinary developmental monitoring
Regular assessment by neurology, genetics, and developmental pediatrics to track growth, monitor for complications such as increased intracranial pressure, and adjust care plans as needed.
monitoringFamily support and genetic counseling
Comprehensive family support including genetic counseling for inheritance patterns, connection to support organizations, and resources for managing chronic developmental disability.
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 Craniosynostosis Intellectual Disability Syndrome Of 51n And Gettig C1857473?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Craniosynostosis Intellectual Disability Syndrome Of 51n And Gettig C1857473. 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