Overview
Microcephaly-brain defect-spasticity-hypernatremia syndrome is an extremely rare genetic condition that affects brain development and the body's ability to regulate sodium levels in the blood. The name describes its main features: microcephaly (an unusually small head), structural brain abnormalities, spasticity (stiff and tight muscles), and hypernatremia (abnormally high sodium levels in the blood). This condition is present from birth or early infancy and leads to significant neurological problems. Babies born with this syndrome typically have a noticeably small head, which reflects underdevelopment of the brain. Brain imaging often reveals structural defects such as abnormal formation of brain tissue. The spasticity causes stiffness in the arms and legs, making movement difficult. The hypernatremia component suggests a problem with how the brain controls water balance in the body, possibly involving dysfunction of the hypothalamus, which is the brain region responsible for regulating thirst and the hormone that controls water retention. Because this syndrome is so rare, there are very few reported cases in the medical literature. There is currently no cure, and treatment focuses on managing symptoms. This may include physical therapy for spasticity, careful monitoring and correction of sodium levels, seizure management if needed, and supportive care to maximize comfort and quality of life. A team of specialists is typically needed to address the various aspects of this complex condition.
Also known as:
Key symptoms:
Unusually small head (microcephaly)Structural brain abnormalitiesStiff and tight muscles (spasticity)High sodium levels in the bloodSevere intellectual disabilitySeizuresDifficulty feedingPoor growth and failure to thriveDelayed or absent developmental milestonesDifficulty controlling body temperatureExcessive thirst or inability to regulate thirstMovement difficultiesVision problems
Clinical phenotype terms (6)— 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 Microcephaly-brain defect-spasticity-hypernatremia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Microcephaly-brain defect-spasticity-hypernatremia 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 Microcephaly-brain defect-spasticity-hypernatremia 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 is causing the high sodium levels in my child's blood, and how will it be managed?,What brain abnormalities were found on imaging, and what do they mean for my child's development?,What therapies are recommended to help with spasticity and movement?,Should we pursue genetic testing, and what might the results tell us?,What emergency signs should I watch for at home?,Are there any clinical trials or research studies that my child might be eligible for?,What is the expected course of this condition, and how can we plan for my child's long-term care needs?
Common questions about Microcephaly-brain defect-spasticity-hypernatremia syndrome
What is Microcephaly-brain defect-spasticity-hypernatremia syndrome?
Microcephaly-brain defect-spasticity-hypernatremia syndrome is an extremely rare genetic condition that affects brain development and the body's ability to regulate sodium levels in the blood. The name describes its main features: microcephaly (an unusually small head), structural brain abnormalities, spasticity (stiff and tight muscles), and hypernatremia (abnormally high sodium levels in the blood). This condition is present from birth or early infancy and leads to significant neurological problems. Babies born with this syndrome typically have a noticeably small head, which reflects underd
How is Microcephaly-brain defect-spasticity-hypernatremia syndrome inherited?
Microcephaly-brain defect-spasticity-hypernatremia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Microcephaly-brain defect-spasticity-hypernatremia syndrome typically begin?
Typical onset of Microcephaly-brain defect-spasticity-hypernatremia syndrome is neonatal. Age of onset can vary across affected individuals.