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partial deletion of the long arm of chromosome 5 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

partial deletion of the long arm of chromosome 5

MONDO:0016904

Also known as:partial deletion of chromosome 5qpartial deletion of the long arm of chromosome type 5partial monosomy of chromosome 5q

Overview

OnsetCONGENITAL, ANTENATAL

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.

Age of onset: at birth, before birth.

GeneReviews

Clinical Guidance

To date, more than 900 individuals have been identified with a pathogenic variant in NSD1 or deletion encompassing NSD1. The largest study to date reviewed 266 persons with NSD1 abnormalities . Based on this review, the clinical features of Sotos syndrome were classified as cardinal features (occurring in ≥90% of affected individuals), major features (occurring in 15%-89%), and associated features (occurring in ≥2% and 15% of persons) . While a few single case reports have been published since this time, no robust additional associations have been delineated. The following description of the phenotypic features associated with this condition is based on these reports.

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 Sotos syndrome have been published.

Suggestive Findings

Sotos syndrome should be suspected/considered in probands with the following features. Characteristic facial appearance (most easily recognizable between ages 1 and 6 years):

Broad, prominent forehead with a dolichocephalic head shape
Sparse frontotemporal hair

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 partial deletion of the long arm of chromosome 5. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Sotos syndrome 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

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

Sotos Syndrome: Recommended Surveillance

System/Concern | Evaluation | Frequency

Feeding

| • Measurement of growth parameters

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 partial deletion of the long arm of chromosome 5.

29 publications have been identified in PubMed for partial deletion of the long arm of chromosome 5. Research spans Review / Meta-Analysis (31%), Case Report / Case Series (24%), and Clinical Trial Publication (17%).

Research Type	Count	% of Total
Research summaries	9	31%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:30 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:262038

GARD

Genetic and Rare Diseases Info Center

GARD:20825

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

Differential Diagnosis

Overgrowth conditions that may be confused with Sotos syndrome are summarized in . Table 3. Overgrowth Conditions to Consider in the Differential Diagnosis of Sotos Syndrome

Gene(s)/ Genetic Mechanism	Disorder	MOI	Clinical Features of Disorder
EED	EED-related overgrowth (Cohen-Gibson syndrome)	AD	Typical but subtle facial appearance, esp in early childhood; height, macrocephaly, scoliosis, ligamentous laxity; Frequently hypotonic at birth (may present w/mixed central hypotonia/ peripheral hypertonia)
EZH2	EZH2-related Weaver syndrome1,2 (See EZH2-Related Overgrowth.)	AD	Pre- postnatal overgrowth; Variable ID; Similar (but distinctive) facial appearance; Advanced bone age; Scoliosis; Joint hypermobility
SUZ12	SUZ12-related overgrowth syndrome (Imagawa-Matsumoto syndrome) (OMIM 618786)	AD	Typical but subtle facial appearance, esp in early childhood; height, macrocephaly, scoliosis, ligamentous laxity; Frequently hypotonic at birth (may present w/mixed central hypotonia/ peripheral hypertonia)
Other disorders of interest Abnormal regulationof gene transcriptionin 2 imprinted domainsat 11p15.53	Beckwith-Wiedemann syndrome (BWS)	AD	Frequently, weight /or height are ≥2 SD at birth.
DNMT3A	Tatton-Brown-Rahman syndrome (DNMT3A-related overgrowth syndrome)	AD	Overgrowth; Variable ID; Joint hypermobility; Scoliosis
FMR1	Fragile X syndrome (See FMR1-Related Disorders.)	XL	Macrocephaly; Typical but subtle facial appearance may overlap w/Sotos syndrome: dolichocephalic head shape, prominent jaw forehead.

Source: GeneReviews — "Sotos Syndrome"

partial deletion of the long arm of chromosome 5

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Feeding

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Constitutional

Development

Psychiatric

Cardiovascular

Genitourinary

Neurologic

Musculoskeletal

Therapies Under Investigation

Clinical Trials

Gastrointestinal

Neurologic

Development

Neurobehavioral/Psychiatric

Musculoskeletal

Ophthalmologic involvement

Cardiovascular

Audiologic

Family/Community

Recent Publications