Living with Absent septum pellucidum
A rare brain difference in which a thin membrane in the middle of the brain is missing.
Understanding Absent septum pellucidum
When it is missing, symptoms may include learning difficulties, behavior changes, seizures, and vision changes. It is not usually found alone. It is tied to other conditions such as septo-optic dysplasia. Imaging tests can make the diagnosis.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these possible signs:
- Learning difficulties
- Behavior changes
- Seizures
- Vision changes
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 doesn't describe a cause for this condition yet. It is usually found with other conditions such as septo-optic dysplasia.
Also known as: absence of septum pellucidum; absence of the septum pellucidum; agenesis of the septum pellucidum; congenital absence of septum pellucidum; missing septum pellucidum
Patient organizations
Rare-disease groups that can help
- 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 Absent septum pellucidum.
Explore research for Absent septum pellucidum
Explore actively recruiting Absent septum pellucidum studies with HealthSpark.
Find actively recruiting studies for Absent septum pellucidum with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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