Holoprosencephaly 5 C1864827
A severe genetic form of brain malformation where the forebrain does not fully separate into two halves. Affected infants face serious developmental and health issues.
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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Sleep study evaluation
Polysomnography to assess for sleep-disordered breathing, which is common in severe holoprosencephaly due to brainstem involvement. Identifies need for airway support or positional management.
Antisialorrhea treatment
Management of excessive drooling using anticholinergic medications, botulinum toxin injections to salivary glands, or other approaches. Reduces skin breakdown and social stigma while improving comfort.
Additional treatment options
Tracheostomy management
Surgical airway creation for patients with severe airway obstruction or insufficient respiratory drive. Allows for mechanical ventilation support and safer secretion management.
procedurePain management program
Comprehensive assessment and treatment of pain, which may be difficult to identify in nonverbal patients. Includes medication, positioning, and non-pharmacological comfort measures.
psychologicalRespite care coordination
Arrangement of scheduled breaks for primary caregivers through in-home services, residential programs, or family support networks. Prevents caregiver burnout and maintains quality of care.
lifestyleWhen 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 5 C1864827?
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 5 C1864827. 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