Living with Pontoneocerebellar hypoplasia
A group of related genetic brain conditions in which parts of the brain that coordinate movement are underdeveloped.
Understanding Pontoneocerebellar hypoplasia
The pons (in the brainstem) and the cerebellum (which coordinates movement) are underdeveloped, and other parts of the brain grow slowly too. This leads to a small head size that becomes clear in infancy and early childhood. People have delayed development, movement problems and intellectual disability. The brain differences are usually present at birth and may be seen before birth.
Signs & symptoms
GARD doesn't list specific symptoms for this condition. It describes these features for the group of conditions:
- Delayed development
- Movement problems
- Intellectual disability
- Small head size (microcephaly)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: non-syndromic pontocerebellar hypoplasia; pch; pontocerebellar hypoplasia; pontoneocerebellar atrophy; pontoneocerebllar hypoplasia
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Pontoneocerebellar hypoplasia.
Explore research for Pontoneocerebellar hypoplasia
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- Recruiting studies from ClinicalTrials.gov
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