Living with Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
A rare inherited brain condition with severe developmental delay, seizures that are hard to control, and brain structure differences.
Understanding Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Children have severe delays in development, with no ability to walk and no spoken language. Epilepsy is hard to control with medicine. Brain imaging shows part of the corpus callosum (the bridge between the brain's halves) missing, a small cerebellar vermis (part of the balance center), and cysts at the back of the skull. Signs begin in the newborn period.
Signs & symptoms
GARD doesn't list specific symptoms, but the summary describes:
- Severe delays in development
- Not able to walk
- No spoken language
- Seizures that are hard to control
- Partly missing corpus callosum
- Small cerebellar vermis with cysts
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.
- 3Consider genetic testing
Changes in KPNA7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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
Changes in the KPNA7 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome
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 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome.
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