Holoprosencephaly 13 X Linked C5393308
A severe genetic form of brain malformation caused by mutations on the X chromosome. It mainly affects males and involves failure of the forebrain to divide properly.
Key facts at a glance
- ICD-10
- Q04.2
- ICD-11
- LA00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Cleft lip/palate
(neurologic)Pituitary dysfunction
(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
Antiseizure Medication
Seizure control through appropriate antiseizure medications selected based on seizure semiology and EEG patterns, with periodic review and potential adjustments as the clinical course evolves.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Neurodevelopmental Assessment
Comprehensive and periodic evaluation of developmental milestones, intellectual functioning, and adaptive skills to guide educational interventions and therapeutic support services.
Additional treatment options
Endocrine Disorder Management
Surgical or medical management of endocrine abnormalities including pituitary dysfunction, which may require hormone replacement therapy or surgical intervention for specific lesions.
surgicalBehavioral and Psychiatric Support
Assessment and management of behavioral challenges, mood disorders, and psychiatric comorbidities associated with the syndrome, including counseling and appropriate psychopharmacology.
psychologicalFamily Support Services
Comprehensive family support including genetic counseling, respite care coordination, and connection to support organizations to address the complex needs of affected individuals and caregivers.
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 Holoprosencephaly 13 X Linked C5393308?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Holoprosencephaly 13 X Linked C5393308. 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