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intellectual disability-severe speech delay-mild dysmorphism syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Language impairment, Failure to thrive in infancy, Delayed CNS myelination, and Generalized hypotonia and others; and common findings: Strabismus, Short nose, Nystagmus, and Hypertelorism and others. 35 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Aggressive behavior, Anxiety, Intellectual disability
Eyes	2	Strabismus, Nystagmus
Muscles	2	Generalized hypotonia, Delayed gross motor development
Growth and development	1	Failure to thrive in infancy
Digestive system	1	Feeding difficulties in infancy
Head and neck	1	Macrocephaly
Arms and legs	1	Prominent digit pad

GeneReviews

Clinical Guidance

FOXP1 syndrome is characterized by mild-to-severe intellectual disability, speech and language impairment in all individuals despite level of cognitive abilities, behavior abnormalities (including autism spectrum disorder or autistic features, attention-deficit/hyperactivity disorder, anxiety, repetitive behaviors, and sensory symptoms), and dysmorphic features. To date, more than 200 individuals have been identified with a pathogenic variant in FOXP1 [, , , , , , , , , , , , , ] (see also FOXP1 Foundation). The following description of the phenotypic features associated with this condition is based on these reports. Table 2. FOXP1 Syndrome: Frequency of Select Features Feature | % of Persons w/Feature Developmental delay | 90%

Intellectual disability	Mild to moderate	63%
Drooling	30% Behavior issues	Repetitive behavior
Anxiety disorder

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 intellectual disability-severe speech delay-mild dysmorphism syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for FOXP1 syndrome have been published. Management recommendations below are based on information in the current literature and the authors' clinical experience. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with FOXP1 syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. FOXP1 Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern	Evaluation	Comment
Constitutional	Height, weight	—
Developmental delay in general (language, social, motor, /or cognitive)*	Developmental assessment (by school system, neurology, developmental medicine, speech pathology, /or psychiatry/psychology)	Assess developmental skills (incl cognitive, language, social, motor, adaptive) need for developmental services.
Neurologic**	Neurologic eval	Evaluate events suggestive of seizures; consider EEG if seizures are a concern.; Evaluate for abnormalities of tone (i.e., hypotonia spasticity).; Perform neurologic exam to evaluate for focal /or other abnormalities that may warrant brain MRI.
Musculoskeletal/ADL**	PT, OT, /or physical medicine rehab eval	Assess:; Gross motor fine motor skills;; Spasticity, joint contractures, scoliosis;; Need for ongoing PT therapy (to improve gross motor skills) /or ongoing OT therapy (to improve fine motor skills, sensory processing).

Source: GeneReviews — "FOXP1 Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Icahn School of Medicine at Mount Sinai is currently recruiting for an observational clinical trial on FOXP1 syndrome (NCT03718923).

Source: GeneReviews — "FOXP1 Syndrome"

Clinical Trials

1 trial found

Explore Trials

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 5. FOXP1 Syndrome: Recommended Surveillance

System/Concern	Evaluation	Frequency
Overall neurodevelopment	Monitor developmental progress educational needs.	As recommended by neurologist /or developmental pediatrician overseeing neurodevelopment Speech language disorder
Motor delay/ ADL	OT/PT assessment of mobility self-help skills, as well as ongoing therapy	As recommended by OT/PT
Skeletal	Eval for skeletal or neuromuscular problems	As recommended by treating pediatrician, neurologist, or physiatrist Neurobehavioral/
Psychiatric	Behavioral assessment for signs of ADHD, ASD, anxiety, aggressive behavior, /or sleeping disturbances	As recommended by treating neurologist, developmental pediatrician, psychologist, or psychiatrist Feeding
Neurologic	Evaluate those w/seizures as clinically indicated.	As recommended by treating neurologist Assess for new manifestations such as seizures, changes in tone, movement disorders.

Source: GeneReviews — "FOXP1 Syndrome"

Phenotype severity distribution: 23 always present features, 10 common features.

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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

19 publications have been identified in PubMed for intellectual disability-severe speech delay-mild dysmorphism syndrome. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (26%), and Review / Meta-Analysis (21%).

Research Type	Count	% of Total
Laboratory research	7	37%
Patient case studies	5	26%
Research summaries	4	21%
Disease patterns and progression	3	16%

Recent Publications

Motta S (2026). [PMID: 41992872](https://pubmed.ncbi.nlm.nih.gov/41992872/). *J Chem Inf Model*. [Basic Science / Preclinical]
Planté-Bordeneuve P (2026). [PMID: 41827018](https://pubmed.ncbi.nlm.nih.gov/41827018/). *Human genomics*. [Basic Science / Preclinical]
Vasconcelos MM (2026). [PMID: 41101354](https://pubmed.ncbi.nlm.nih.gov/41101354/). *Jornal de pediatria*. [Review / Meta-Analysis]
Xiang J (2026). [PMID: 41716553](https://pubmed.ncbi.nlm.nih.gov/41716553/). *Frontiers in neurology*. [Case Report / Case Series]
Coll-Tané M (2026). [PMID: 41919501](https://pubmed.ncbi.nlm.nih.gov/41919501/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Ortiz A (2025). [PMID: 38895440](https://pubmed.ncbi.nlm.nih.gov/38895440/). *bioRxiv : the preprint server for biology*. [Case Report / Case Series]
Levy T (2025). [PMID: 40066139](https://pubmed.ncbi.nlm.nih.gov/40066139/). *Frontiers in psychiatry*. [Epidemiology / Natural History]
Fröhlich H (2025). [PMID: 40568906](https://pubmed.ncbi.nlm.nih.gov/40568906/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Basic Science / Preclinical]
Fisher SE (2025). [PMID: 41159814](https://pubmed.ncbi.nlm.nih.gov/41159814/). *Journal of speech, language, and hearing research : JSLHR*. [Review / Meta-Analysis]
Koene S (2025). [PMID: 41175749](https://pubmed.ncbi.nlm.nih.gov/41175749/). *Research in developmental disabilities*. [Epidemiology / Natural History]

Kisho

intellectual disability-severe speech delay-mild dysmorphism syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

intellectual disability-severe speech delay-mild dysmorphism syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team