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Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings reported and there have been no further descriptions in the literature since 1986.
Biomarker and diagnostic research for microcephaly-brain defect-spasticity-hypernatremia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for microcephaly-brain defect-spasticity-hypernatremia syndrome.
200 publications have been identified in PubMed for microcephaly-brain defect-spasticity-hypernatremia syndrome. Kisho has analyzed 79 by research type. Research spans Review / Meta-Analysis (75%), Basic Science / Preclinical (11%), and Epidemiology / Natural History (6%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 59 | 75% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:06 AM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
9 |
11% |
Disease patterns and progression | 5 | 6% |
Patient case studies | 3 | 4% |
Testing and diagnosis research | 2 | 3% |
New treatment approaches | 1 | 1% |
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Curr Opin Clin Nutr Metab Care*. [Review / Meta-Analysis]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Dev Med Child Neurol*. [Review / Meta-Analysis]
Ali SB (2025). [PMID: 40561878](https://pubmed.ncbi.nlm.nih.gov/40561878/). *Curr Res Transl Med*. [Review / Meta-Analysis]
Karuntu JS (2025). [PMID: 39733931](https://pubmed.ncbi.nlm.nih.gov/39733931/). *Prog Retin Eye Res*. [Review / Meta-Analysis]
Pignataro G (2025). [PMID: 41010942](https://pubmed.ncbi.nlm.nih.gov/41010942/). *Medicina (Kaunas)*. [Review / Meta-Analysis]
Walther LE (2025). [PMID: 40192781](https://pubmed.ncbi.nlm.nih.gov/40192781/). *HNO*. [Review / Meta-Analysis]
Sahoo SS (2025). [PMID: 39475954](https://pubmed.ncbi.nlm.nih.gov/39475954/). *Blood*. [Review / Meta-Analysis]
Yacoub MR (2025). [PMID: 40747632](https://pubmed.ncbi.nlm.nih.gov/40747632/). *Curr Opin Allergy Clin Immunol*. [Review / Meta-Analysis]
AI-curated news mentioning microcephaly-brain defect-spasticity-hypernatremia syndrome
Updated Mar 2, 2026
Research identifies bi-allelic GSPT1 variants linked to a syndromic neurodevelopmental disorder, which includes symptoms of intellectual disability and microcephaly. This discovery enhances understanding of genetic factors in rare neurodevelopmental conditions.
Children born with microcephaly due to congenital Zika virus infection encounter significant health and developmental challenges by 19-24 months of age. This highlights the ongoing need for support and resources for affected families.
CDC allocates nearly $184 million to combat Zika virus and its associated health risks, including microcephaly. This funding will support various states, territories, and universities in their efforts to protect public health.
A study reveals a four-fold increase in microcephaly cases in Colombia following the 2016 Zika virus outbreak, indicating that the risk is highest among pregnant women infected early in their pregnancy. This finding underscores the broader impact of Zika virus outbreaks beyond Brazil.