Overview
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is an extremely rare condition that affects the brain and other internal organs. The name describes its main features: porencephaly (fluid-filled cavities or cysts within the brain), cerebellar hypoplasia (underdevelopment of the cerebellum, the part of the brain that controls balance and coordination), and various internal malformations affecting other organs in the body. This syndrome is present from birth and typically causes severe neurological problems. Babies born with this condition often show significant developmental delays, intellectual disability, seizures, and problems with movement and coordination. The internal malformations can involve the kidneys, heart, eyes, and other organs, making this a multi-system disorder. The severity of symptoms can vary depending on the size and location of the brain cysts and which other organs are affected. Because this syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on supportive care, which may include anti-seizure medications, physical therapy, occupational therapy, and surgical interventions for specific organ malformations. A team of specialists is usually needed to address the wide range of problems that can occur. Early intervention services are important to help maximize each child's developmental potential, even though significant challenges are expected.
Also known as:
Key symptoms:
Fluid-filled cysts in the brain (porencephaly)Underdeveloped cerebellum (back part of the brain)Seizures or epilepsySevere intellectual disabilityDelayed motor developmentPoor muscle tone or abnormal muscle stiffnessDifficulty with balance and coordinationKidney malformationsHeart defectsEye abnormalitiesFeeding difficultiesFailure to thrive or poor growthAbnormal head size (microcephaly or hydrocephalus)Limited or absent speech development
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-cerebellar hypoplasia-internal malformations syndrome.
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Specialists
View all specialists →No specialists are currently listed for Porencephaly-cerebellar hypoplasia-internal malformations 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-cerebellar hypoplasia-internal malformations 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 brain involvement in my child, and what does this mean for their development?,Which internal organs are affected, and what monitoring or treatment is needed for each?,What seizure medications are recommended, and what side effects should I watch for?,Should we pursue genetic testing, and what would the results mean for our family?,What therapies and early intervention services should we start, and how often?,Are there any surgical procedures that could help my child's condition?,What is the expected course of this condition, and how can we plan for my child's long-term care needs?
Common questions about Porencephaly-cerebellar hypoplasia-internal malformations syndrome
What is Porencephaly-cerebellar hypoplasia-internal malformations syndrome?
Porencephaly-cerebellar hypoplasia-internal malformations syndrome is an extremely rare condition that affects the brain and other internal organs. The name describes its main features: porencephaly (fluid-filled cavities or cysts within the brain), cerebellar hypoplasia (underdevelopment of the cerebellum, the part of the brain that controls balance and coordination), and various internal malformations affecting other organs in the body. This syndrome is present from birth and typically causes severe neurological problems. Babies born with this condition often show significant developmental
How is Porencephaly-cerebellar hypoplasia-internal malformations syndrome inherited?
Porencephaly-cerebellar hypoplasia-internal malformations syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Porencephaly-cerebellar hypoplasia-internal malformations syndrome typically begin?
Typical onset of Porencephaly-cerebellar hypoplasia-internal malformations syndrome is neonatal. Age of onset can vary across affected individuals.