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intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome (MRD37) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Enlarged brain ventricles (ventriculomegaly) and Cerebellar hypoplasia; and very common findings: Exaggerated cupid's bow, Delayed speech and language development, Depressed nasal tip, and Hypertelorism and others. 100 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	18	Focal impaired awareness seizure, Hypoplasia of the brainstem, Cerebral visual impairment
Eyes	7	Strabismus, Nystagmus, Damage to the optic nerve (optic atrophy)
Muscles	7	Generalized hypotonia, Joint contracture, Damage to the optic nerve (optic atrophy)
Head and neck	7	Microcephaly, Thin upper lip vermilion, High palate
Bones and joints	4	Joint contracture, Sideways curvature of the spine (scoliosis), Wormian bones
Digestive system	3	Gastroesophageal reflux, Constipation, Feeding difficulties
Ears	3	Inner ear hearing loss (sensorineural hearing impairment), Recurrent otitis media, Bilateral sensorineural hearing impairment
Arms and legs	2	Broad toe, Broad foot
Growth and development	1	Short stature
Lungs and breathing	1	Obstructive sleep apnea

Age of onset: before birth.

GeneReviews

Clinical Guidance

White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), and autism spectrum disorder (ASD) as well as other behavioral problems. Additional features commonly reported include hypotonia, gastrointestinal problems, seizures, microcephaly, sensorineural hearing loss, strabismus, short stature, tendency towards obesity, and sleep disturbance (particularly sleep apnea). To date, more than 90 individuals have been identified with a pathogenic variant in POGZ [, , , , , , , , , , , , , , , , , , , , , , , , ]. and the following description of the phenotypic features associated with this condition are based on these reports. Table 2. Select Features of White-Sutton Syndrome

Feature	# of Persons w/Feature	Comment
Learning difficulties	76/76 (100%)	LD in 5/19 persons; Mild ID in 8/19; Moderate ID in 3/19; Severe ID in 3/191

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-microcephaly-strabismus-behavioral abnormalities syndrome. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor	Designated	Exclusivity End	Designation Status
3-fluoro-5-[5-(2-menthyl-thiazol-4-ylethylnyl)-pyridin-2-yl]-benzonitrile dihydrochloride	3-fluoro-5-[5-(2-menthyl-thiazol-4-ylethylnyl)-pyridin-2-yl]-benzonitrile dihydrochloride	Seaside Therapeutics	2008	—	Designated

Gene therapy approaches for intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for White-Sutton syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with White-Sutton syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with White-Sutton Syndrome

System/Concern	Evaluation	Comment
delay	Developmental assessment	To incl motor, adaptive, cognitive, speech/language eval; Eval for early intervention/ special education
Motor delay	Physical medicine rehab/ PT OT eval

Clinical Trials

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Prognosis

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

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with White-Sutton Syndrome

System/Concern	Evaluation	Frequency
Development	Monitor developmental progress educational needs.	At each visit Psychiatric/
Behavioral	Behavioral assessment for anxiety, attention, aggressive or self-injurious behavior	At each visit; follow up w/psychiatrist as needed for severe behavioral problems
Neurologic	Monitor those w/seizures.	As clinically indicated Assess for new manifestations such as seizures or changes in tone.
Eyes	For persons w/refractive errors, optic nerve hypoplasia, /or strabismus: per treating ophthalmologist	As clinically indicated Hearing
Gastrointestinal	Monitor for constipation vomiting.	At each visit Feeding
Genitourinary	For persons w/renal/ urinary tract anomalies: per treating urologist /or nephrologist	As clinically indicated
Musculoskeletal	Physical medicine, OT/PT assessment of mobility, self-help skills	At each visit Family/

Source: GeneReviews — "White-Sutton Syndrome"

Phenotype severity distribution: 2 always present features, 7 very common features, 55 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.

No clinical trials have been registered for intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome.

207 publications have been identified in PubMed for intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome. Kisho has analyzed 141 by research type. Research spans Case Report / Case Series (29%), Basic Science / Preclinical (29%), and Review / Meta-Analysis (24%).

Research Type	Count	% of Total
Patient case studies	41	29%
Laboratory research	41	29%
Research summaries	34	24%
Disease patterns and progression	17	12%
Testing and diagnosis research	5	4%
Other research	1	1%
Clinical study results	1	1%
New treatment approaches	1	1%

Recent Publications

Manav Yiğit Z (2026). [PMID: 41320952](https://pubmed.ncbi.nlm.nih.gov/41320952/). *Balkan Med J*. [Diagnostic / Biomarker]
Hindermann M (2026). [PMID: 41729076](https://pubmed.ncbi.nlm.nih.gov/41729076/). *JCI Insight*. [Basic Science / Preclinical]
Tripathi M (2026). [PMID: 36256770](https://pubmed.ncbi.nlm.nih.gov/36256770/). *Unknown Journal*. [Other]
Balestrini S (2026). [PMID: 41137852](https://pubmed.ncbi.nlm.nih.gov/41137852/). *Epilepsia*. [Basic Science / Preclinical]
Kuruppath P (2026). [PMID: 41559886](https://pubmed.ncbi.nlm.nih.gov/41559886/). *Eur J Neurosci*. [Review / Meta-Analysis]
Rotulo GA (2026). [PMID: 41390316](https://pubmed.ncbi.nlm.nih.gov/41390316/). *Pediatr Neonatol*. [Review / Meta-Analysis]
Musante I (2026). [PMID: 41325909](https://pubmed.ncbi.nlm.nih.gov/41325909/). *Neurobiol Dis*. [Basic Science / Preclinical]
Cerulli Irelli E (2025). [PMID: 39718534](https://pubmed.ncbi.nlm.nih.gov/39718534/). *Epilepsia*. [Epidemiology / Natural History]
Patel R (2025). [PMID: 40204117](https://pubmed.ncbi.nlm.nih.gov/40204117/). *Journal of neuroradiology = Journal de neuroradiologie*. [Diagnostic / Biomarker]
Zhai D (2025). [PMID: 39868814](https://pubmed.ncbi.nlm.nih.gov/39868814/). *The Journal of cell biology*. [Case Report / Case Series]

Kisho

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Orphan Drug Designations

Management Guidelines

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team