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isolated focal cortical dysplasia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated focal cortical dysplasia

MONDO:0019009

Also known as:epilepsy due to FCD

Overview

Isolated focal cortical dysplasia is a rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disorder characterized by variable-sized, focalized malformations located in any part(s) of the cerebral cortex, which manifests with drug-resistant epilepsy (usually leading to intellectual disability) and behavioral disturbances. Abnormal MRI findings (e.g. abnormal white and/or gray matter signal, blurred gray-white matter junction, localized volume loss, cortical thickening, abnormal gyral pattern, abnormal hippocampus) and variable histopathologic patterns are associated.

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: Nervous system problems (abnormality of the nervous system), Seizure, Psychomotor deterioration, and Abnormal neuron morphology and others; and common findings: Atypical behavior, Mild intellectual disability, Hemiparesis, and Focal impaired awareness seizure and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	15	Nervous system problems (abnormality of the nervous system), Seizure, Brain imaging abnormality

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for Smith-Kingsmore syndrome (SKS) have been published.

Suggestive Findings

SKS should be considered in probands with the following clinical and brain MRI findings and family history.

Clinical findings

Source: GeneReviews — "Smith-Kingsmore Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for isolated focal cortical dysplasia. The disease remains an area of unmet medical need.

Gene therapy approaches for isolated focal cortical dysplasia have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for Smith-Kingsmore syndrome (SKS) have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. Smith-Kingsmore Syndrome: Recommended Surveillance

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 isolated focal cortical dysplasia.

115 publications have been identified in PubMed for isolated focal cortical dysplasia. Research spans Basic Science / Preclinical (37%), Diagnostic / Biomarker (18%), and Review / Meta-Analysis (15%).

Research Type	Count	% of Total
Laboratory research	42	37%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:08 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:65683

GARD

Genetic and Rare Diseases Info Center

GARD:16671

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?

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GeneReviews

Clinical Guidance

To date, at least 100 individuals have been identified with a pathogenic variant in MTOR leading to SKS [, , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Smith-Kingsmore Syndrome: Frequency of Select Features

Feature	% of Persons w/Feature	Comment
Developmental delay/ intellectual disability	89/94 (95%)	Most commonly in the moderate-to-severe range
Developmental regression observed in 18% Macrocephaly	88/98 (90%)	—
Distinctive facial features	57/72 (79%)	Recognizable for persons w/pathogenic variants in FAT kinase domains (See .)
Brain malformations	65/82 (79%)	Incl megalencephaly, agenesis or hypogenesis of corpus callosum, cortical malformations, generalized white matter loss w/accompanying ventriculomegaly (ex vacuo)
Neuromuscular concerns	48/61 (79%)	Incl hypotonia
Sleep-wake abnormalities	27/35 (77%)	Incl insomnia, obstructive sleep apnea, circadian rhythm sleep-wake phase disorder
Ophthalmologic problems	34/48 (71%)	Incl strabismus, refractory abnormalities, optic atrophy
Skeletal abnormalities	29/45 (64%)	Most commonly scoliosis
Epilepsy	48/79 (61%)	Generalized, focal, or status epilepticus
Generalized overgrowth	28/59 (47%)	Mostly in early childhood; not a prominent feature in adulthood
Autism	36/79 (46%)	—
Hyperphagia	11/27 (41%)	Early onset
Cardiovascular problems	18/45 (40%)	Incl valvar abnormalities, septal defects, aortic root dilatation
ADHD/hyperactivity	11/49 (22%)	Developmental delays and intellectual disability. The majority of affected individuals exhibit developmental delays, which are often the first noticeable feature, typically presenting before the age of two years.

Source: GeneReviews — "Smith-Kingsmore Syndrome"

Kisho

isolated focal cortical dysplasia

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

PIK3CA

Neurologic

Development

Psychiatric

Musculoskeletal

Clinical Trials

Recent Publications

isolated focal cortical dysplasia

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

PIK3CA

Neurologic

Development

Psychiatric

Musculoskeletal

Clinical Trials

Recent Publications