Holoprosencephaly 3 C1840529
A severe congenital brain malformation associated with a specific genetic cause. It results in the forebrain failing to split into two distinct hemispheres.
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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Endocrine function monitoring
Regular assessment of pituitary gland function including growth hormone, thyroid function, and adrenal axis. Early detection of hormonal deficiencies allows for timely replacement therapy.
Hormone replacement therapy
Replacement of deficient pituitary hormones including growth hormone, thyroid hormone, and corticosteroids as indicated by testing. Requires coordination with pediatric endocrinologist for dosing adjustments.
Additional treatment options
Midface reconstruction
Surgical procedures to address craniofacial abnormalities including midface hypoplasia, cleft palate repair, and orbital positioning. May improve airway, feeding, and cosmetic concerns.
surgicalNutritional support management
Specialized feeding plans addressing dysphagia, poor weight gain, and specific nutritional needs. May include thickened liquids, modified food textures, or supplemental feeding tube nutrition.
dietaryEndoscopic third ventriculostomy
Alternative to shunting for select hydrocephalus cases, creating a pathway for CSF drainage through the floor of the third ventricle. Less hardware-dependent than shunting but not suitable for all patients.
procedureWhen 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 3 C1840529?
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 3 C1840529. 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