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Biomarker and diagnostic research for congenital ichthyosis-microcephalus-tetraplegia syndrome has been reported in the published literature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for congenital ichthyosis-microcephalus-tetraplegia syndrome.
200 publications have been identified in PubMed for congenital ichthyosis-microcephalus-tetraplegia syndrome. Kisho has analyzed 118 by research type. Research spans Review / Meta-Analysis (56%), Basic Science / Preclinical (15%), and Case Report / Case Series (13%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 66 | 56% |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:38 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research |
18 |
15% |
Patient case studies | 15 | 13% |
Disease patterns and progression | 12 | 10% |
Testing and diagnosis research | 3 | 3% |
New treatment approaches | 2 | 2% |
Other research | 1 | 1% |
Clinical study results | 1 | 1% |
Akçay AA (2026). [PMID: 41451794](https://pubmed.ncbi.nlm.nih.gov/41451794/). *Clin Genet*. [Basic Science / Preclinical]
Borg Azzopardi D (2026). [PMID: 41638760](https://pubmed.ncbi.nlm.nih.gov/41638760/). *BMJ Case Rep*. [Basic Science / Preclinical]
Wang Y (2026). [PMID: 41873429](https://pubmed.ncbi.nlm.nih.gov/41873429/). *Hum Reprod Open*. [Case Report / Case Series]
Chauhan M (2026). [PMID: 42074498](https://pubmed.ncbi.nlm.nih.gov/42074498/). *Genes (Basel)*. [Review / Meta-Analysis]
Tkemladze T (2026). [PMID: 41044236](https://pubmed.ncbi.nlm.nih.gov/41044236/). *Eur J Hum Genet*. [Diagnostic / Biomarker]
Chowdhury U (2026). [PMID: 41651545](https://pubmed.ncbi.nlm.nih.gov/41651545/). *BMJ Case Rep*. [Case Report / Case Series]
Mangla M (2026). [PMID: 40878775](https://pubmed.ncbi.nlm.nih.gov/40878775/). *J Neonatal Perinatal Med*. [Review / Meta-Analysis]
Al Amin ASM (2026). [PMID: 32965966](https://pubmed.ncbi.nlm.nih.gov/32965966/). *Unknown Journal*. [Case Report / Case Series]
Tana C (2026). [PMID: 41980458](https://pubmed.ncbi.nlm.nih.gov/41980458/). *J Fr Ophtalmol*. [Review / Meta-Analysis]
Fiumara M (2026). [PMID: 41175032](https://pubmed.ncbi.nlm.nih.gov/41175032/). *Curr Opin Rheumatol*. [Review / Meta-Analysis]
AI-curated news mentioning congenital ichthyosis-microcephalus-tetraplegia syndrome
Updated Mar 18, 2026
A recent study published in PubMed explores social media listening in congenital ichthyosis, providing both quantitative and qualitative insights. The findings highlight the importance of patient experiences and community engagement in understanding this rare skin disorder.