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hemimegalencephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hemimegalencephaly

MONDO:0020492

Also known as:unilateral megalencephalymacrencephaly

Find Clinical TrialsTrials

Overview

Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis. Management includes seizure control by antiepileptic medications and early hemispherectomy.

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Seizure, Interictal EEG abnormality, and Hyperintensity of cerebral white matter on MRI; and common findings: Cranial asymmetry, Abnormal skull morphology, Global developmental delay, and Enlarged brain ventricles (ventriculomegaly) and others. 33 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Seizure, Hyperintensity of cerebral white matter on MRI, Global developmental delay

Diagnosis

Biomarker and diagnostic research for hemimegalencephaly has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 13 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE1. Research is primarily industry-sponsored.

43 publications have been identified in PubMed for hemimegalencephaly. Research spans Case Report / Case Series (37%), Clinical Trial Publication (23%), and Review / Meta-Analysis (14%).

Research Type	Count	% of Total
Patient case studies	16	37%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:30 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99802

GARD

Genetic and Rare Diseases Info Center

GARD:2637

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hemimegalencephaly

Overview

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Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

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hemimegalencephaly

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

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