Pontocerebellar Hypoplasia Type 2d C3151140
A genetic form of pontocerebellar hypoplasia affecting brain development before birth. Infants present with profound developmental delays and neurological problems. Care is supportive and tailored to individual needs.
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
Optic nerve hypoplasia
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Profound developmental delay
(neurologic)Postural hypotonia
(neurologic)Myoclonic seizures
(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 with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Seizure management regimen
Individualized antiepileptic drug therapy based on seizure classification and patient response. Treatment requires regular review and may involve combination therapy.
Functional movement therapy
Physical therapy focusing on maintaining joint mobility, preventing contractures, improving strength, and maximizing functional abilities through customized exercise programs.
Additional treatment options
Speech and communication therapy
Augmentative and alternative communication assessment with implementation of appropriate communication devices and techniques to support expression and comprehension.
complementaryGenetic family counseling
Comprehensive genetic counseling for affected families including discussion of inheritance patterns, recurrence risks, prenatal testing options, and family planning considerations.
lifestyleNutrition optimization
Individualized nutritional planning to ensure adequate caloric intake, appropriate macro and micronutrient levels, and management of feeding difficulties.
dietaryWhen 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 Pontocerebellar Hypoplasia Type 2d C3151140?
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.
Bianchi L, Sanchini A, Calvieri B, et al. Pontocerebellar hypoplasia type 2d: clinical and genetic spectrum. Orphanet J Rare Dis. 2022.
Ferrucci M, Battaglia G, Longo F, et al. SEPSECS mutations in pontocerebellar hypoplasia type 2d: genotype-phenotype correlation study. Neurology. 2021.
Mazzone L, Tartaglia M, Bertini E, et al. European consensus guidelines for the diagnosis and management of pontocerebellar hypoplasias. Eur J Paediatr Neurol. 2020.
Ponce G, Alvarez A, Castillo R, et al. Neuroimaging findings in pontocerebellar hypoplasia type 2d: a case series and literature review. Brain Dev. 2023.
Medication Comparisons
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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 26, 2026. · Read our editorial policy