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pachygyria-intellectual disability-epilepsy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pachygyria-intellectual disability-epilepsy syndrome

MONDO:0010840

Also known as:Kuzniecky syndromepachygyria with intellectual disability and seizurespachygyria with intellectual disability, seizures, and arachnoid cysts

Overview

A rare, genetic neurological disorder characterized by the presence of diffuse pachygyria and arachnoid cysts, psychomotor developmental delay and intellectual disability. Seizures (absence, atonic and generalized tonic-clonic) and, on occasion, headache are also associated.

GeneticsAutosomal recessive

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: Global developmental delay, Seizure, and Severe intellectual disability; and common findings: Premature birth. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Bilateral tonic-clonic seizure, Atypical absence seizure, Global developmental delay

Diagnosis

Biomarker and diagnostic research for pachygyria-intellectual disability-epilepsy syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 1 common feature.

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 pachygyria-intellectual disability-epilepsy syndrome.

56 publications have been identified in PubMed for pachygyria-intellectual disability-epilepsy syndrome. Research spans Case Report / Case Series (56%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Patient case studies	30	56%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600176

Orphanet

European rare disease database

Orphanet:2798

GARD

Genetic and Rare Diseases Info Center

GARD:409

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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Kisho

pachygyria-intellectual disability-epilepsy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

pachygyria-intellectual disability-epilepsy syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications