Overview
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome is an extremely rare genetic neurological disorder that affects brain development and movement. The condition is characterized by three main features: spastic tetraplegia (severe stiffness and difficulty moving all four limbs), a thin corpus callosum (the band of nerve fibers connecting the two halves of the brain is thinner than normal), and progressive postnatal microcephaly (the head grows more slowly than expected after birth, resulting in a smaller-than-normal head size over time). Children with this condition typically show significant developmental delays, intellectual disability, and may have seizures. The disease is caused by mutations in the SLC1A4 gene, which plays an important role in transporting certain amino acids in the brain. Because the brain does not develop properly, affected children often have trouble with voluntary movements, feeding, and communication. There is currently no cure for this condition. Treatment focuses on managing symptoms and improving quality of life through physical therapy, occupational therapy, seizure management, and nutritional support. A team of specialists is usually needed to address the many challenges these children face. Early intervention with therapies can help maximize each child's potential, though the degree of improvement varies from person to person.
Also known as:
Key symptoms:
Severe muscle stiffness in all four limbs (spastic tetraplegia)Head size that becomes progressively smaller than expected after birthThin connection between the two halves of the brainSignificant intellectual disabilityDelayed or absent developmental milestonesSeizures or epilepsyDifficulty feeding and swallowingPoor or absent speech developmentInvoluntary muscle movementsPoor head controlVision problemsIrritability and excessive cryingFailure to thrive or poor weight gain
Clinical phenotype terms (34)— hover any for plain English
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 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly 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 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly 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.What specific genetic mutation does my child have, and what does it mean for their outlook?,What therapies should we start right away, and how often should they occur?,What seizure medications are recommended, and what side effects should I watch for?,Is my child at risk for feeding or swallowing problems, and should we see a feeding specialist?,Are there any clinical trials or experimental treatments, such as L-serine supplementation, that might be appropriate?,What is the chance of having another child with this condition, and should we pursue genetic counseling?,What support services and early intervention programs are available in our area?
Common questions about Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
What is Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome?
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome is an extremely rare genetic neurological disorder that affects brain development and movement. The condition is characterized by three main features: spastic tetraplegia (severe stiffness and difficulty moving all four limbs), a thin corpus callosum (the band of nerve fibers connecting the two halves of the brain is thinner than normal), and progressive postnatal microcephaly (the head grows more slowly than expected after birth, resulting in a smaller-than-normal head size over time). Children with this cond
How is Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome inherited?
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome typically begin?
Typical onset of Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome is neonatal. Age of onset can vary across affected individuals.