Overview
Porencephaly-microcephaly-bilateral congenital cataract syndrome is an extremely rare condition that affects the brain and eyes from before birth. The name describes its three main features: porencephaly (fluid-filled cavities or cysts within the brain where normal brain tissue should be), microcephaly (an abnormally small head, which reflects reduced brain growth), and bilateral congenital cataracts (clouding of the lenses in both eyes present at birth). Together, these features lead to significant neurological and visual problems. Children born with this syndrome typically have severe developmental delays and intellectual disability because of the structural brain abnormalities. The cataracts cause significant vision impairment or blindness if not addressed. Seizures are also commonly reported. Affected children may have difficulty with feeding, movement, and reaching developmental milestones such as sitting, crawling, or walking. There is currently no cure for this syndrome. Treatment is supportive and focuses on managing individual symptoms. Cataract surgery may be performed to improve vision when possible. Anti-seizure medications can help control epilepsy. Physical therapy, occupational therapy, and early intervention programs are important to help maximize each child's developmental potential. Because this condition is so rare, much remains unknown about its full spectrum and long-term outcomes, and care is best coordinated by a team of specialists.
Key symptoms:
Fluid-filled cysts in the brain (porencephaly)Abnormally small head (microcephaly)Cloudy lenses in both eyes present at birth (bilateral cataracts)Severe intellectual disabilityDelayed development (sitting, walking, talking)Seizures or epilepsyVision loss or blindnessDifficulty feedingMuscle stiffness or weaknessPoor muscle tone in infancyLimited or absent speechDifficulty with coordination and movement
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Porencephaly-microcephaly-bilateral congenital cataract syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Porencephaly-microcephaly-bilateral congenital cataract 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 Porencephaly-microcephaly-bilateral congenital cataract 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
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 is the extent of the brain abnormalities, and how might they affect my child's development?,When should cataract surgery be performed, and what visual outcomes can we expect?,What seizure medications are recommended, and what side effects should I watch for?,Are there genetic tests that could help us understand the cause and the chance of this happening in future pregnancies?,What therapies and early intervention services should we start, and how often?,Are there any clinical trials or research studies my child might be eligible for?,What emergency signs should I watch for at home, and what should I do if they occur?
Common questions about Porencephaly-microcephaly-bilateral congenital cataract syndrome
What is Porencephaly-microcephaly-bilateral congenital cataract syndrome?
Porencephaly-microcephaly-bilateral congenital cataract syndrome is an extremely rare condition that affects the brain and eyes from before birth. The name describes its three main features: porencephaly (fluid-filled cavities or cysts within the brain where normal brain tissue should be), microcephaly (an abnormally small head, which reflects reduced brain growth), and bilateral congenital cataracts (clouding of the lenses in both eyes present at birth). Together, these features lead to significant neurological and visual problems. Children born with this syndrome typically have severe devel
How is Porencephaly-microcephaly-bilateral congenital cataract syndrome inherited?
Porencephaly-microcephaly-bilateral congenital cataract syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Porencephaly-microcephaly-bilateral congenital cataract syndrome typically begin?
Typical onset of Porencephaly-microcephaly-bilateral congenital cataract syndrome is neonatal. Age of onset can vary across affected individuals.