Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

diencephalic-mesencephalic junction dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diencephalic-mesencephalic junction dysplasia

MONDO:0017868

Also known as:diencephalic-mesencephalic junction dysplasia syndrome

Overview

A rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionally, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.

OnsetINFANTILE

ResearchLimited published research (7 articles)

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for diencephalic-mesencephalic junction dysplasia.

7 publications have been identified in PubMed for diencephalic-mesencephalic junction dysplasia. Research spans Review / Meta-Analysis (43%), Case Report / Case Series (43%), and Basic Science / Preclinical (14%).

Recent Publications

Xuan X (2026). [PMID: 42087735](https://pubmed.ncbi.nlm.nih.gov/42087735/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Rakotomamonjy J (2026). [PMID: 41867234](https://pubmed.ncbi.nlm.nih.gov/41867234/). *medRxiv*. [Basic Science / Preclinical]
Tortora M (2026). [PMID: 41269339](https://pubmed.ncbi.nlm.nih.gov/41269339/). *Neuroradiology*. [Review / Meta-Analysis]
Balireddi O (2025). [PMID: 40479631](https://pubmed.ncbi.nlm.nih.gov/40479631/). *Neurology*. [Review / Meta-Analysis]
Herrada-Pineda T (2025). [PMID: 40163139](https://pubmed.ncbi.nlm.nih.gov/40163139/). *Childs Nerv Syst*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:319192

GARD

Genetic and Rare Diseases Info Center

GARD:21407

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

diencephalic-mesencephalic junction dysplasia

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team