Overview
Intracranial aneurysms-multiple congenital anomalies syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic category by Orphanet. This means that the condition has been reclassified, merged with another diagnosis, or is no longer recognized as a distinct syndrome. The original description involved patients who had weakened, balloon-like bulges in blood vessels inside the brain (intracranial aneurysms) along with multiple birth defects (congenital anomalies) affecting various organ systems. These birth defects could include abnormalities of the heart, skeleton, kidneys, or other structures present from birth. Because this entry is obsolete, patients who were previously given this diagnosis may now fall under a different, more precisely defined condition. The specific symptoms, severity, and outlook would depend on which updated diagnosis applies. If you or a family member was previously diagnosed with this syndrome, it is important to consult with a clinical geneticist who can review the case using current diagnostic criteria and genetic testing technologies. Modern genetic testing, including whole exome or whole genome sequencing, may help identify the specific underlying genetic cause and lead to a more accurate diagnosis, which in turn can guide treatment and management decisions.
Key symptoms:
Balloon-like bulges in brain blood vessels (intracranial aneurysms)Birth defects affecting multiple body systemsHeart defects present at birthSkeletal abnormalitiesKidney or urinary tract abnormalitiesUnusual facial featuresPossible developmental delaysRisk of brain bleeding from ruptured aneurysmPossible growth problems
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome.
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 OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.Is this diagnosis still considered valid, or should we pursue updated genetic testing to get a more specific diagnosis?,What type of genetic testing do you recommend for our family?,How often should brain imaging be done to monitor for aneurysms?,What are the warning signs of a brain aneurysm rupture that we should watch for?,Are there other family members who should be screened?,What specialists should be part of our care team?,Are there any clinical trials or research studies we should know about?
Common questions about OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome
What is OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome?
Intracranial aneurysms-multiple congenital anomalies syndrome is an extremely rare condition that has been described in medical literature but is now considered an obsolete diagnostic category by Orphanet. This means that the condition has been reclassified, merged with another diagnosis, or is no longer recognized as a distinct syndrome. The original description involved patients who had weakened, balloon-like bulges in blood vessels inside the brain (intracranial aneurysms) along with multiple birth defects (congenital anomalies) affecting various organ systems. These birth defects could inc
At what age does OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome typically begin?
Typical onset of OBSOLETE: Intracranial aneurysms-multiple congenital anomalies syndrome is neonatal. Age of onset can vary across affected individuals.