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syndrome caused by partial chromosomal deletion - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

syndrome caused by partial chromosomal deletion

MONDO:0000761

Also known as:microdeletion syndromechromosomal deletion syndrome

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Overview

A chromosomal disorder consisting of the absence of a part of a chromosome.

OnsetINFANTILE

Clinical Trials2 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.

Age of onset: infancy.

GeneReviews

Clinical Guidance

To date, more than 400 individuals with a deletion or pathogenic variant involving RAI1 have been reported [, , , ]. The following description of the phenotypic features associated with Smith-Magenis syndrome (SMS) is based on these reports. SMS has a clinically recognizable phenotype that includes physical, developmental, and behavioral features . The phenotypic features can be subtle in infancy and early childhood, frequently delaying diagnosis until school age, when the characteristic facial appearance and behavioral manifestations may be more readily apparent.

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-Magenis syndrome (SMS) have been published.

Suggestive Findings

Clinical findings. SMS should be suspected in individuals with the following clinical findings :

Source: GeneReviews — "Smith-Magenis 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 syndrome caused by partial chromosomal deletion. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Management guidelines for Smith-Magenis syndrome (SMS) have been published by PRISMS. See Medical Management Guidelines and Management Checklist (revised/approved 24 January 2018).

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with SMS, 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. Smith-Magenis 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.

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

123 publications have been identified in PubMed for syndrome caused by partial chromosomal deletion. Research spans Case Report / Case Series (40%), Review / Meta-Analysis (23%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Patient case studies	49

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 2 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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Differential Diagnosis

Smith-Magenis syndrome (SMS) should be distinguished from other syndromes that include developmental delay, infantile hypotonia, short stature, distinctive facies, and behavioral manifestations. The pervasive behavioral aspects and circadian sleep disorder associated with inverted melatonin secretion can help distinguish SMS from other neurodevelopmental disorders. However, because the phenotype of SMS is broad and changes with time, all disorders with intellectual disability without other distinctive findings should be considered in the differential diagnosis. See OMIM Phenotypic Series for genes associated with: • Autosomal dominant intellectual developmental disorders; • Autosomal recessive intellectual developmental disorders; • Nonsyndromic X-linked intellectual developmental disorders; • Syndromic X-linked intellectual developmental disorders. The most common of the neurodevelopmental disorders of interest in the differential diagnosis of SMS include Down syndrome (trisomy 21) and those listed in . Table 3. Disorders with Developmental Delay/ Intellectual Disability of Interest in the Differential Diagnosis of Smith-Magenis Syndrome

Gene/ Genetic Mechanism	Disorder	MOI	Overlapping Clinical Features w/SMS (in addition to DD/ID):
22q11.2 deletion syndrome	AD	Hypotonia; Early feeding issues speech delay; CHD (25% in SMS); Velopharyngeal insufficiency; Cleft palate; Low Igs; Strabismus; Hearing loss; Psychiatric comorbidities (e.g., ASD, ADHD, anxiety); Skeletal anomalies (scoliosis, vertebral anomalies) Abnormal methylation w/in PWCR at 15q11.2-q13)	—
Prader-Willi syndrome	See footnote 1.	Infantile hypotonia; Lethargy; Early growth abnormalities; Childhood obesity (hyperphagia); Strabismus; Behavior issues (tantrums, autistic features, ADHD, anxiety); Sleep disturbances	—
CHD2	CHD2-related neurodevelopmental disorders2	AD3	Early-onset seizure disorder (photic stimulation triggers); Language impairment; ASD, ADHD
Challenging behaviors, aggression DEAF14	Vulto-van Silfout-de Vries syndrome5 (OMIM 615828)	AD3	Speech delays; Hypotonia, gait issues; Seizures; High pain threshold; Autistic features; Sleep issues Deficient expression or function of maternally inherited UBE3A allele

Source: GeneReviews — "Smith-Magenis Syndrome"

Kisho

syndrome caused by partial chromosomal deletion

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Growth

Differential Diagnosis

Neurologic

Development

Behavior

Respiratory

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

syndrome caused by partial chromosomal deletion

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Growth

Differential Diagnosis

Neurologic

Development

Behavior

Respiratory

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications