Overview
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is an extremely rare genetic disorder that affects brain development and function from birth. Babies born with this condition have an abnormally small head (microcephaly) because the brain does not grow properly during pregnancy. The condition also causes severe encephalopathy, which means the brain does not work as it should, leading to profound intellectual disability and very limited development of motor and cognitive skills. A hallmark of this syndrome is progressive cerebral atrophy, meaning the brain tissue continues to shrink over time after birth, which worsens neurological problems. Affected infants typically show severe developmental delays, seizures that are often difficult to control, feeding difficulties, abnormal muscle tone (either too stiff or too floppy), and very limited or absent voluntary movements. Many children also have problems with vision and hearing. This condition is classified under amino acid metabolism disorders (ICD-10 code E72.8), suggesting it involves a disruption in how the body processes certain amino acids, which is critical for normal brain development. Unfortunately, there is currently no cure for this syndrome. Treatment is supportive and focuses on managing seizures, ensuring adequate nutrition (often through tube feeding), physical therapy, and providing comfort care. The prognosis is generally very poor, with significant impact on quality of life and lifespan.
Also known as:
Key symptoms:
Abnormally small head at birth (microcephaly)Severe intellectual disabilitySeizures that are hard to controlProgressive brain shrinkageSevere developmental delaysFeeding difficultiesAbnormally stiff or floppy musclesLittle or no voluntary movementVision problemsHearing problemsFailure to reach developmental milestonesIrritability or excessive cryingBreathing difficultiesPoor weight gain and growth
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 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome.
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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 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome.
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Caregiver Resources
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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.What specific genetic mutation does my child have, and what does it mean for their condition?,What seizure medications are available, and what are the side effects we should watch for?,Should we consider a feeding tube, and when is the right time to make that decision?,What therapies can help improve my child's comfort and quality of life?,Are there any clinical trials or research studies we could participate in?,What is the expected course of this disease, and how should we plan for the future?,Can you refer us to palliative care or family support services?
Common questions about Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
What is Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome?
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is an extremely rare genetic disorder that affects brain development and function from birth. Babies born with this condition have an abnormally small head (microcephaly) because the brain does not grow properly during pregnancy. The condition also causes severe encephalopathy, which means the brain does not work as it should, leading to profound intellectual disability and very limited development of motor and cognitive skills. A hallmark of this syndrome is progressive cerebral atrophy, meaning the brain tis
How is Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome inherited?
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome typically begin?
Typical onset of Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome?
1 specialists and care centers treating Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.