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pervasive developmental disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pervasive developmental disorder

MONDO:0000594

Also known as:pervasive development disorderpervasive child development disorderspervasive development disorders

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Overview

A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.

Clinical Trials7 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.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

FOXG1 syndrome is characterized by severe global developmental delay, postnatal growth deficiency, congenital or postnatal microcephaly, moderate-to-profound intellectual disability with absent speech development, epilepsy, hyperkinetic/dyskinetic movement disorder, abnormal sleep patterns, unexplained episodes of crying, and gastroesophageal reflux. To date, more than 150 individuals have been identified with an intragenic FOXG1 pathogenic variant or deletion of FOXG1. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Select Features of FOXG1 Syndrome Feature | % of Persons w/Feature Development

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

Suggestive Findings

FOXG1 syndrome should be considered in probands with the following clinical and brain MRI findings.

Clinical findings

Source: GeneReviews — "FOXG1 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 pervasive developmental disorder. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for FOXG1 syndrome have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with FOXG1 syndrome, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.

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.

FOXG1 Syndrome: Recommended Surveillance

System/Concern | Evaluation | Frequency

Development

| Monitor developmental progress educational needs. | At each visit

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.

7 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Pipeline includes 1 PHASE2, 4 NA. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07160517](https://clinicaltrials.gov/study/NCT07160517)

Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 3:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 7 active clinical trials 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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Developmental delay	100%
Additional neurologic features	Hyperkinetic/dyskinetic movement disorder stereotypic movements
Neurobehavioral manifestations	Deficient social interactions poor eye contact
Gastrointestinal manifestations	Feeding difficulties
Growth	Short stature

Differential Diagnosis

Table 3. Selected Disorders of Interest in the Differential Diagnosis of FOXG1 Syndrome

Gene/ Genetic Mechanism	Disorder	MOI	Features of Disorder
CDKL5	CDKL5-related early infantile epileptic encephalopathy (See CDLK5 Deficiency Disorder.)	XL	Severe DD/ID; Hypotonia; Central visual impairment; Deceleration of growth (weight, height, head circumference) after birth; Neuroimaging may show progressive cerebral atrophy (but not malformations, as characteristically observed in FOXG1 syndrome).
MECP2	MECP2-related Rett syndrome (See MECP2 Disorders.)	XL	Global DD; Sleep disturbances; Seizures; Hand stereotypies loss of purposeful hand skills; Breathing irregularities; Agitation
Angelman syndrome	See footnote 1.	Severe DD/ID; Severe speech impairment; Acquired microcephaly; Seizures	Unique behavior w/apparent happy demeanor, frequent laughing, smiling, excitability; Gait ataxia (not hypotonia /or spasticity as in FOXG1 syndrome); Highly characteristic EEG features are noted early in disease course.; Neuroimaging is typically normal.

Source: GeneReviews — "FOXG1 Syndrome"

Research Type	Count	% of Total
Disease patterns and progression	11	23%
Research summaries	10	21%
Clinical study results	9	19%
Laboratory research	6	13%
Other research	5	10%
Testing and diagnosis research	4	8%
Patient case studies	3	6%

Kisho

pervasive developmental disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Development

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Development

Neurologic

Neurobehavioral

Feeding

Musculoskeletal

Therapies Under Investigation

Clinical Trials

Neurologic

Neurobehavioral

Gastrointestinal

Respiratory

Musculoskeletal

Ophthalmologic involvement

Gastrointestinal

Family/Community

Recent Publications

pervasive developmental disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Development

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Development

Neurologic

Neurobehavioral

Feeding

Musculoskeletal

Therapies Under Investigation

Clinical Trials

Neurologic

Neurobehavioral

Gastrointestinal

Respiratory

Musculoskeletal

Ophthalmologic involvement

Gastrointestinal

Family/Community

Recent Publications