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microlissencephaly-micromelia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microlissencephaly-micromelia syndrome

MONDO:0018860

Also known as:Basel-Vanagaite-Sirota syndrome

Overview

Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.

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 microlissencephaly-micromelia syndrome.

200 publications have been identified in PubMed for microlissencephaly-micromelia syndrome. Kisho has analyzed 52 by research type. Research spans Review / Meta-Analysis (73%), Basic Science / Preclinical (17%), and Epidemiology / Natural History (6%).

Research Type	Count	% of Total
Research summaries	38	73%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 2:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:50810

GARD

Genetic and Rare Diseases Info Center

GARD:18840

Questions for Your Care Team

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microlissencephaly-micromelia syndrome

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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