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Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.
Biomarker and diagnostic research for macrocephaly-short stature-paraplegia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for macrocephaly-short stature-paraplegia syndrome.
200 publications have been identified in PubMed for macrocephaly-short stature-paraplegia syndrome. Kisho has analyzed 135 by research type. Research spans Review / Meta-Analysis (66%), Basic Science / Preclinical (14%), and Epidemiology / Natural History (7%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 89 | 66% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 2:36 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
19 |
14% |
Disease patterns and progression | 9 | 7% |
Patient case studies | 8 | 6% |
Testing and diagnosis research | 7 | 5% |
Other research | 2 | 1% |
Clinical study results | 1 | 1% |
Lee S (2026). [PMID: 41206258](https://pubmed.ncbi.nlm.nih.gov/41206258/). *Am J Geriatr Psychiatry*. [Review / Meta-Analysis]
Anderson EN (2026). [PMID: 41468891](https://pubmed.ncbi.nlm.nih.gov/41468891/). *Am J Hum Genet*. [Basic Science / Preclinical]
Amado C (2026). [PMID: 40975490](https://pubmed.ncbi.nlm.nih.gov/40975490/). *Ann Allergy Asthma Immunol*. [Review / Meta-Analysis]
Papazachariou A (2026). [PMID: 41128447](https://pubmed.ncbi.nlm.nih.gov/41128447/). *Current opinion in clinical nutrition and metabolic care*. [Review / Meta-Analysis]
Ferri C (2026). [PMID: 41798958](https://pubmed.ncbi.nlm.nih.gov/41798958/). *Front Immunol*. [Review / Meta-Analysis]
Sakuma H (2025). [PMID: 39143740](https://pubmed.ncbi.nlm.nih.gov/39143740/). *Developmental medicine and child neurology*. [Diagnostic / Biomarker]
Pena C (2025). [PMID: 40146047](https://pubmed.ncbi.nlm.nih.gov/40146047/). *Minerva medica*. [Review / Meta-Analysis]
Cornejo-Sanchez DM (2025). [PMID: 40055553](https://pubmed.ncbi.nlm.nih.gov/40055553/). *European journal of human genetics : EJHG*. [Basic Science / Preclinical]
Mutai H (2025). [PMID: 39755840](https://pubmed.ncbi.nlm.nih.gov/39755840/). *Human genetics*. [Basic Science / Preclinical]
Dotan A (2025). [PMID: 39931017](https://pubmed.ncbi.nlm.nih.gov/39931017/). *Harefuah*. [Review / Meta-Analysis]
AI-curated news mentioning macrocephaly-short stature-paraplegia syndrome
Updated Mar 16, 2026
Rare Disease Day 2026 highlights the ongoing struggles of families facing undiagnosed conditions, including hydrocephalus and Dandy-Walker syndrome. The event emphasizes the need for awareness and support for those dealing with complex health challenges.