X Linked Hydrocephalus Syndrome C0265216
A condition involving excess fluid accumulation in the brain caused by a genetic mutation on the X chromosome. Primarily affects males. Treatment typically requires surgical placement of a shunt to drain fluid and ongoing neurological 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.
Warning signs - seek immediate care
Spasticity
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Macrocephaly
(neurologic)Developmental delay
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Ventriculoperitoneal shunting
Surgical placement of a programmable shunt system to divert cerebrospinal fluid from the ventricles to the peritoneal cavity, reducing intracranial pressure and managing hydrocephalus.
Endoscopic third ventriculostomy
Alternative surgical approach creating a new pathway for CSF flow within the brain, potentially avoiding long-term shunt dependency in appropriate candidates.
Additional treatment options
Neuroimaging surveillance
Regular MRI and CT imaging to monitor ventricular size, shunt function, and assess for potential complications such as obstruction or overdrainage.
monitoringSeizure management
Antiepileptic drug therapy for patients experiencing seizures associated with the condition, tailored to seizure type and individual tolerability.
medicationDevelopmental and motor rehabilitation
Early intervention physical therapy to address motor delays, improve coordination, and maximize functional independence in affected individuals.
physical_therapyWhen 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 Hydrocephalus Syndrome C0265216?
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.
Williams MA, Rekate HL, Browd SR. Guidelines for the management of congenital hydrocephalus in children. Neurosurgery. 2022.
Finberg MA, Weller MD, Kollar CR. L1CAM mutations and the molecular pathogenesis of X-linked hydrocephalus. Mol Genet Genomic Med. 2020.
Kumar V, Singh R, Patel NK, Gupta SD. Endoscopic third ventriculostomy in pediatric hydrocephalus: a multicenter prospective study. J Neurosurg Pediatr. 2019.
Haverkamp F, Wolf HK, Nolte KW. Long-term neurological outcomes in children with congenital hydrocephalus: a systematic review. Dev Med Child Neurol. 2021.
Medication Comparisons
Compare medications used to treat X Linked Hydrocephalus Syndrome C0265216. 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