Absence of the septum pellucidum

Absence of the septum pellucidum is a rare neurological condition that involves the thin membrane located at the midline of the brain between the two cerebral hemispheres, or halves of the brain. It is connected to the corpus callosum—a collection of nerve fibers that connect the cerebral hemispheres.

Absence of the septum pellucidum alone is not a disorder but is instead a characteristic noted in children with septo-optic dysplasia (an abnormality of the optic disc, with pituitary deficiencies and absence of the septum pellucidum) or other developmental anomalies. This rare abnormality has no cure but by itself, absence of the septum pellucidum is not life-threatening and some symptoms of the disorder can be treated.

Symptoms of the disorder may include:

• Learning difficulties
• Abnormal development of the optic disk
• Rapid involuntary movement of the eyes
• Low muscle tone
• Behavior issues
• Seizures
• Jaundice
• Pituitary deficiencies/hormonal imbalance

Unfortunately, absence of the septum pellucidum is a rare condition and most cases happen without a known cause. This means there if often not much information known about the disorder. Doctors and researchers do not se enough patients with absence of the septum pellucidum. This makes hard from them to learn through observations or large studies.

How can I or my loved one help improve care for people with absence of the septum pellucidum?

Consider participating in a clinical trial so clinicians and scientists can learn more about absence of the septum pellucidum. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with absence of the septum pellucidum at Clinicaltrials.gov.

Where can I find more information about absence of the septum pellucidum?

The following organizations and resources help individuals, families, friends, and caregivers of people living with absence of the septum pellucidum or septo-optic dysplasia:

Genetic and Rare Diseases (GARD) Information Center

Magic Foundation
Phone: 800- 362-4423

March of Dimes
Phone: 888-663-4637

National Eye Institute
Phone: 301-496-5248

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Phone: 301-496-3583 or 866-569-1162

Content source: https://www.ninds.nih.gov/health-information/disorders/absence-septum-pellucidum Accessed June 21, 2023.

The information in this document is for general educational purposes only. It is not intended to substitute for personalized professional advice. Although the information was obtained from sources believed to be reliable, MedLink, its representatives, and the providers of the information do not guarantee its accuracy and disclaim responsibility for adverse consequences resulting from its use. For further information, consult a physician and the organization referred to herein.