X Linked Intellectual Disability Corpus Callosum Agenesis Spastic Quadriparesis Syndrome C4304936
A severe X-linked disorder with incomplete brain connecting structure development and muscle stiffness affecting all limbs. Requires comprehensive supportive and therapeutic care.
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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Spastic quadriparesis
(neurologic)Corpus callosum agenesis
(neurologic)Seizures
(neurologic)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
Intensive Physical Therapy
Structured physical therapy program focusing on spasticity management, range of motion exercises, and mobility training to maintain function and prevent contractures. Therapy sessions typically include stretching, strengthening, and positioning techniques.
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Spasticity Management
Pharmacological agents to reduce muscle spasticity and improve comfort, typically including muscle relaxants or antispasmodic medications. Treatment aims to facilitate easier caregiving and improve quality of life.
Additional treatment options
Multidisciplinary Surveillance
Regular monitoring by neurology, orthopedics, and developmental specialists to assess disease progression and intervene early. Includes periodic imaging and functional assessments.
monitoringOrthopedic Intervention
Surgical procedures such as tendon lengthening or joint stabilization for severe contractures or skeletal deformities that impair mobility or cause pain. Reserved for cases where conservative measures fail.
surgicalWhen 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 X Linked Intellectual Disability Corpus Callosum Agenesis Spastic Quadriparesis Syndrome C4304936?
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.
Moeschler JB, Shevell RC, Saul RA, et al. Comprehensive evaluation of intellectual disability and congenital anomalies: practice guidelines for the genetic evaluation of children. Am J Med Genet A. 2021;185(11):3291-3304.
Chiurazzi P, Schwartz CE, Gecz J, Ropers HH. XLID syndromes and intellectual disability due to mutations in genes regulating corpus callosum development. Clin Genet. 2018;94(3-4):233-250.
Bouazzi H, Lesca G, Santosh-Konium C, et al. Expanding the phenotypic spectrum of X-linked intellectual disability with corpus callosum agenesis: a multi-center study. Orphanet J Rare Dis. 2020;15(1):283.
Gecz J, Shoubridge C, Corbett M. The genetic basis of intellectual disability. Nat Rev Genet. 2019;20(2):85-105.
Medication Comparisons
Compare medications used to treat X Linked Intellectual Disability Corpus Callosum Agenesis Spastic Quadriparesis Syndrome C4304936. 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