2q23 1 Microduplication Syndrome C4707847
A rare genetic condition involving extra copies of genetic material on chromosome 2. Features vary based on which genes are duplicated. Management focuses on specific symptoms present.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Epileptic seizures that may begin in infancy or early childhood, varying in type and severity.
Seek immediate care for any seizure activity, especially first-time seizures or seizures lasting more than 5 minutes.
Recurrent aspirations
Frequent inhalation of food or liquids into the lungs due to swallowing difficulties, which can cause respiratory infections.
Seek immediate care for choking episodes, persistent cough, or recurrent lung infections.
Global developmental delay
(neurologic)Significant delays in reaching developmental milestones including motor, cognitive, and speech development during early childhood.
Frequency: 90-100% of patients
Speech and language impairment
(neurologic)Severe delays in speech development, often with absent or severely limited verbal communication skills.
Frequency: 90-100% of patients
Autistic-like behaviors
(neurologic)Repetitive behaviors, socialcommunication difficulties, and restricted interests characteristic of autism spectrum disorder.
Frequency: 60-70% of patients
Hypotonia
(neurologic)Low muscle tone present from infancy, resulting in floppiness and delayed motor skills such as sitting and walking.
Frequency: 50-60% of patients
Sleep disturbances
(sleep)Significant sleep problems including difficulty falling asleep, frequent nighttime awakenings, or abnormal sleep patterns.
Frequency: 50-60% of patients
Dental anomalies
(dental)Abnormalities in tooth development including delayed eruption, missing teeth, or abnormal tooth shape and size.
Frequency: 40-50% of patients
Behavioral problems
(behavioral)Hyperactivity, attention difficulties, aggression, or self-injurious behaviors may occur.
Frequency: 40-50% of patients
Vision impairments
(vision)Various visual problems including strabismus (crossed eyes), refractive errors, or other ocular abnormalities.
Frequency: 20-30% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Neurodevelopmental Surveillance
Ongoing monitoring of cognitive development, behavioral patterns, and neurological function to detect and address emerging needs promptly.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Motor Development Program
Specialized therapy addressing developmental coordination disorder, low muscle tone, and motor planning difficulties commonly seen in microduplication syndromes.
Additional treatment options
Educational Support Services
Individualized education plan development with appropriate accommodations, specialized instruction, and learning support tailored to cognitive profile.
psychologicalSeizure and Sleep Management
When seizures or significant sleep disturbances are present, appropriate antiepileptic or sleep-regulating medications may be considered.
medicationSpeech and Language Therapy
Communication development services addressing speech delays, language comprehension, and alternative communication strategies when needed.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is 2q23 1 Microduplication Syndrome C4707847?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
OMIM #618073: 2q23.1 Microduplication Syndrome. Online Mendelian Inheritance in Man.
Willsey AJ, et al. 2q23.1 microduplication syndrome: refining the phenotype. Am J Med Genet A.
Talkowski ME, et al. Assessment of 2q23.1 microduplication syndrome: clinical features of MBD5-associated neurodevelopmental disorder. Mol Syndromol.
Coe BP, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet.
Genetics Home Reference. 2q23.1 microduplication syndrome. U.S. National Library of Medicine.
Mullegama SV, et al. Clinical and molecular characterization of individuals with 2q23.1 microduplication. Clin Genet.
Jordan VK, et al. MBD5 haploinsufficiency is associated with intellectual disability and autism spectrum disorder. Clin Genet.
NCBI Gene. MBD5 (Methyl-CpG Binding Domain Protein 5) Gene. National Center for Biotechnology Information.
ACMG Standards and Guidelines for Constitutional Copy Number Variant Interpretation. American College of Medical Genetics and Genomics.
Tiantou E, et al. Genotype-phenotype correlation in 2q23.1 microduplication syndrome: systematic review and meta-analysis. Hum Genet.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy