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proximal 16p11.2 microdeletion syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

proximal 16p11.2 microdeletion syndrome

MONDO:0012756

Also known as:autism susceptibility 14Achromosome 16p11.2 deletion syndrome, 593kbproximal del(16)(p11.2)

Overview

A chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

TreatmentsNo approved treatments · 1 in pipeline

ResearchLimited published research (4 articles)

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.

Features include common findings: Seizure, Feeding difficulties in infancy, and Motor delay. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Delayed speech and language development, Seizure, Global developmental delay

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

The 16p11.2 recurrent deletion should be considered in individuals with the following clinical findings:

Motor speech disorder, especially childhood apraxia of speech
Language disorder
Learning difficulties/ intellectual disability

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 proximal 16p11.2 microdeletion syndrome. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for proximal 16p11.2 microdeletion 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 proximal 16p11.2 microdeletion syndrome. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

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 the 16p11.2 Recurrent Deletion

System/Concern

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 proximal 16p11.2 microdeletion syndrome.

4 publications have been identified in PubMed for proximal 16p11.2 microdeletion syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

McRae AM (2025). [PMID: 39257254](https://pubmed.ncbi.nlm.nih.gov/39257254/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Elsayed LEO (2024). [PMID: 39232803](https://pubmed.ncbi.nlm.nih.gov/39232803/). *Human genomics*. [Review / Meta-Analysis]
Cai M (2024). [PMID: 39665492](https://pubmed.ncbi.nlm.nih.gov/39665492/). *J Clin Lab Anal*. [Basic Science / Preclinical]
Chen J (2024). [PMID: 39108315](https://pubmed.ncbi.nlm.nih.gov/39108315/). *Front Neurosci*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 11:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:611913

Orphanet

European rare disease database

Orphanet:261197

GARD

Genetic and Rare Diseases Info Center

GARD:10740

Questions for Your Care Team

→What is the current development status of Fasudil hydrochloride, and when might it become available?
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GeneReviews

Clinical Guidance

The 16p11.2 recurrent deletion is one of the most common known genetic causes of neurodevelopmental disorders . Common clinical features include motor speech disorder, language disorder, motor coordination difficulties, psychiatric conditions, and autistic features. Clinical follow-up data from adults suggest that the greatest medical challenges are obesity and related comorbidities that can be exacerbated by medications used to treat behavioral and psychiatric problems. Table 2. Select Features of the 16p11.2 Recurrent Deletion

Feature	% of Personsw/Feature	Comment
Developmental delay	Most (if not all)	Degree varies significantly.
Psychiatric/behavioral issues	90%	50% have ≥1 psychiatric/behavioral diagnoses. Most report symptoms of behavioral conditions.
Motor speech disorders	80%	Incl apraxia, dysarthria; majority mild-to-moderate, some minimally verbal
Language disorder	80%-90%	Broadly impaired receptive, expressive, pragmatic domains
Obesity	75%	Onset in early adolescence through adulthood
Motor coordination difficulties	60%	—
Autistic features / autism	20%-25%	—
Seizures	25%	—
Vertebral anomalies	21%	May be assoc w/scoliosis
Hearing loss	11%	Both sensorineural conductive reported
Paroxysmal kinesigenic dyskinesia (PKD)	≤9%	Incl benign familial infantile seizures, PKD, PKD w/infantile convulsions
Cardiac malformations	6%	Most if not all individuals with the 16p11.2 recurrent deletion experience some degree of developmental delay, although the severity varies. Developmental coordination (motor) disorder is one of the most common diagnoses in individuals with the 16p11.

Source: GeneReviews — "16p11.2 Recurrent Deletion"

GeneReviews

Management Guidelines

No clinical practice guidelines for the 16p11.2 recurrent deletion have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with the 16p11.2 recurrent deletion, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with the 16p11.2 Recurrent Deletion

System/Concern	Evaluation	Comment
Constitutional	In those age 2 yrs: measure growth parameters calculate BMI.	To assess for obesity
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Psychiatric/
Behavioral	Neuropsychiatric eval	For those age 12 mos: screening for concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD
Neurologic	Neurologic eval incl assessment for movement disorders dystonia, for signs/symptoms of brain stem dysfunction1	To incl brain MRI w/particular assessment for posterior fossa /or craniocervical junction-related abnormalities2; Consider EEG if seizures are a concern.
Musculoskeletal	AP lateral spinal radiographs	To assess for vertebral anomalies/scoliosis Orthopedics/ physical medicine rehab/ PT OT eval
Endocrinologic	Consider obtaining fasting blood glucose hemoglobin A1c.	To screen for diabetes in those who are overweight
Hearing	Audiology eval	To assess for hearing loss
Cardiovascular	Auscultation for heart murmur	Consider echocardiography in those w/signs/symptoms suggestive of a congenital heart defect. Blood pressure
counseling	By genetics professionals3	To inform affected persons their families re nature, MOI, implications of the 16p11.2 recurrent deletion in order to facilitate medical personal decision making Family support resources
Treatment of Manifestations in Individuals with the 16p11.2 Recurrent Deletion Manifestation/Concern	Treatment	Considerations/Other Obesity
Intellectual disability	See .	—
Psychiatric/Behavioral	Standard treatment per psychologist /or psychiatrist	See .
Epilepsy	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers1 Paroxysmal
kinesigenic dyskinesia	Consideration of low doses of carbamazepine or phenytoin	—
Dystonia	Standard treatment per neurologist	May incl use of antiparkinsonian drugs
Chiari I malformation / Syringomyelia	Standard treatment per neurosurgeon	—
Scoliosis	Standard treatment per orthopedist	—
Type II diabetes	Standard treatment per endocrinologist	May incl use of an oral hypoglycemic medication in addition to healthy diet exercise Hearing

Source: GeneReviews — "16p11.2 Recurrent Deletion"

Kisho

proximal 16p11.2 microdeletion syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

proximal 16p11.2 microdeletion syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

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

Clinical Guidance

Explore clinical features

Differential Diagnosis

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials