Holoprosencephaly 6 C1853830
A severe brain malformation caused by specific genetic changes affecting forebrain development. It occurs from birth and leads to significant neurological impairment.
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
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Microcephaly
(neurologic)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
Hydrocephalus management surgery
Surgical intervention to address hydrocephalus commonly associated with holoprosencephaly, including ventricular shunt placement or endoscopic third ventriculostomy to manage cerebrospinal fluid accumulation.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive neurological monitoring
Regular neuroimaging, developmental assessments, and endocrine evaluations to track disease progression and identify complications requiring intervention.
Additional treatment options
Anticonvulsant therapy for seizure management
Pharmacological management of seizure activity using appropriate anticonvulsant medications selected based on seizure type and patient tolerability.
medicationEarly intervention developmental therapy
Intensive physical, occupational, and speech therapy programs designed to maximize functional abilities and support developmental milestones.
physical_therapyEndocrine evaluation and hormone replacement
Comprehensive endocrine testing to assess pituitary function with appropriate hormone replacement therapy for identified deficiencies.
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 6 C1853830?
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 6 C1853830. 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