Overview
Enlarged parietal foramina (EPF), also known as foramina parietalia permagna or parietal foramina with cleidocranial dysplasia, is a rare condition where two small openings (holes) in the back of the skull, called parietal foramina, are larger than normal. In most people, these openings close before or shortly after birth. In people with EPF, they stay open and enlarged throughout life. The condition is usually present from birth and can be seen on imaging of the skull. For many people, enlarged parietal foramina cause no symptoms at all and are discovered by accident during a brain scan done for another reason. However, some people experience headaches, scalp tenderness over the openings, or in rare cases, seizures. The skin and tissue over the openings may feel soft or pulsate. In some cases, EPF is linked to other brain or skull differences. Treatment is usually not needed for people without symptoms. Those who do have symptoms, such as seizures or headaches, are treated for those specific problems. Because this condition is genetic, family members may also be checked. The outlook for most people with EPF is very good, especially when no other health problems are present.
Also known as:
Key symptoms:
Enlarged openings in the back of the skull visible on imagingHeadachesScalp tenderness or sensitivity over the skull openingsSoft or pulsating feeling on the scalp at the back of the headSeizures (in some cases)No symptoms at all in many people (found by accident)
Clinical phenotype terms (20)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Enlarged parietal foramina.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Enlarged parietal foramina at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Enlarged parietal foramina.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Enlarged parietal foramina.
Community
No community posts yet. Be the first to share your experience with Enlarged parietal foramina.
Start the conversation →Latest news about Enlarged parietal foramina
No recent news articles for Enlarged parietal foramina.
Follow this condition to be notified when news becomes available.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Do I need any regular monitoring or follow-up imaging for this condition?,Should I or my child wear a helmet or protective headgear during sports or activities?,What are the signs that something has gone wrong and I need to go to the emergency room?,Should other family members be tested for this condition?,Is genetic counseling recommended if I am planning to have children?,Are there any activity restrictions I should follow?,What should I tell my other doctors and emergency providers about this condition?
Common questions about Enlarged parietal foramina
What is Enlarged parietal foramina?
Enlarged parietal foramina (EPF), also known as foramina parietalia permagna or parietal foramina with cleidocranial dysplasia, is a rare condition where two small openings (holes) in the back of the skull, called parietal foramina, are larger than normal. In most people, these openings close before or shortly after birth. In people with EPF, they stay open and enlarged throughout life. The condition is usually present from birth and can be seen on imaging of the skull. For many people, enlarged parietal foramina cause no symptoms at all and are discovered by accident during a brain scan done
How is Enlarged parietal foramina inherited?
Enlarged parietal foramina follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Enlarged parietal foramina typically begin?
Typical onset of Enlarged parietal foramina is neonatal. Age of onset can vary across affected individuals.