Overview
Pseudo-TORCH syndrome type 2 is a very rare inherited brain condition that is present from birth. The name comes from the fact that babies with this condition look as though they may have been infected before birth with certain viruses or parasites (called TORCH infections — toxoplasmosis, rubella, cytomegalovirus, and herpes). However, no actual infection is found. Instead, the condition is caused by a change (mutation) in a gene called IKBKG (also known as NEMO). This gene plays an important role in controlling inflammation in the body. Babies with Pseudo-TORCH syndrome type 2 are typically very sick from birth or shortly after. The brain does not develop normally, and calcium deposits form in the brain tissue — a finding called brain calcification. This causes serious problems with brain function. Key symptoms include severe intellectual disability, seizures, very small head size (microcephaly), muscle stiffness or weakness, and skin changes. Some babies also have liver and blood problems. There is currently no cure for this condition. Treatment focuses on managing symptoms, especially seizures, and providing supportive care. Because the condition is so rare and severe, care usually involves a team of specialists including neurologists, geneticists, and developmental pediatricians. Early supportive care and therapy can help improve quality of life, though the overall outlook remains very serious.
Also known as:
Key symptoms:
Very small head size (microcephaly)Calcium deposits in the brain (brain calcification)Severe intellectual disabilitySeizuresMuscle stiffness or spasticitySkin rashes or unusual skin changesLiver problems (hepatomegaly or liver inflammation)Low platelet count (thrombocytopenia), which can cause easy bruising or bleedingFeeding difficulties in infancyDelayed or absent developmental milestonesEye abnormalitiesIrritability or abnormal tone in newborns
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Pseudo-TORCH syndrome type 2.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Pseudo-TORCH syndrome type 2 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Pseudo-TORCH syndrome type 2.
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 Pseudo-TORCH syndrome type 2.
Community
No community posts yet. Be the first to share your experience with Pseudo-TORCH syndrome type 2.
Start the conversation →Latest news about Pseudo-TORCH syndrome type 2
No recent news articles for Pseudo-TORCH syndrome type 2.
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.What genetic testing should our family members have, and what does the result mean for future pregnancies?,What is the best anti-seizure medication plan for my child, and what should I do if a seizure does not stop?,Are there any clinical trials or research studies we could participate in?,What therapies (physical, occupational, speech) would benefit my child most right now?,How often should we have brain imaging and blood tests to monitor the condition?,What signs should prompt us to go to the emergency room immediately?,Are there any specialists or centers with specific experience in Pseudo-TORCH syndrome we should be referred to?
Common questions about Pseudo-TORCH syndrome type 2
What is Pseudo-TORCH syndrome type 2?
Pseudo-TORCH syndrome type 2 is a very rare inherited brain condition that is present from birth. The name comes from the fact that babies with this condition look as though they may have been infected before birth with certain viruses or parasites (called TORCH infections — toxoplasmosis, rubella, cytomegalovirus, and herpes). However, no actual infection is found. Instead, the condition is caused by a change (mutation) in a gene called IKBKG (also known as NEMO). This gene plays an important role in controlling inflammation in the body. Babies with Pseudo-TORCH syndrome type 2 are typically
How is Pseudo-TORCH syndrome type 2 inherited?
Pseudo-TORCH syndrome type 2 follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Pseudo-TORCH syndrome type 2 typically begin?
Typical onset of Pseudo-TORCH syndrome type 2 is neonatal. Age of onset can vary across affected individuals.