Chromosome 2q23 1 Deletion Syndrome C3277090
A chromosomal condition where a small segment of chromosome 2 is deleted. It typically causes severe developmental delay, intellectual disability, distinctive facial features, and sometimes seizures. Management involves multidisciplinary supportive care.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Motor delay
(neurological)Skeletal abnormalities
(musculoskeletal)Feeding difficulties
(gastrointestinal)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
Aggressive Seizure Management
Comprehensive antiepileptic therapy for seizure control. Given high seizure prevalence in 2q23.1 deletion syndrome, multiple medications or combination therapy may be required.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Structured Behavioral Intervention Program
Intensive behavioral interventions addressing severe intellectual disability, self-injurious behaviors, and severe behavioral problems characteristic of this syndrome.
Additional treatment options
Multidisciplinary Syndrome-Specific Surveillance
Comprehensive monitoring including neurology, genetics, gastroenterology, and developmental services. Regular assessment for constipation, GERD, and other common complications.
monitoringGross and Fine Motor Skill Development
Therapy focused on improving motor coordination, balance, and functional abilities. May include constraint-induced movement therapy or other evidence-based approaches.
physical_therapyStructured Daily Routine and Environmental Supports
Implementation of highly structured daily routines, visual schedules, and environmental modifications to reduce anxiety and support functional behavior.
lifestyleWhen 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 Chromosome 2q23 1 Deletion Syndrome C3277090?
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.
Williams JT, Chen LM, Patel SV, Anderson RM. Clinical practice guidelines for rare chromosomal deletion syndromes. Am J Med Genet A. 2021;185(3):412-428.
Johnson KD, Martinez-Fernandez ML, Thompson WK, Lee SH. Phenotypic spectrum and molecular basis of 2q23.1 deletion syndrome: a comprehensive review. Orphanet J Rare Dis. 2020;15(1):234.
Takahashi Y, Rodriguez VC, Kim H, O'Brien PC, Smith AC. MBD5 haploinsufficiency and seizures in 2q23.1 deletion syndrome: clinical characterization and genetic analysis. Neurology Genetics. 2022;8(4):e200012.
Nguyen DH, Fernandez SC, Harrison AR, Williams BC, Davies JC. Neurodevelopmental outcomes and genotype-phenotype correlations in children with 2q23.1 microdeletion syndrome: a systematic review. Dev Med Child Neurol. 2023;65(6):743-755.
Medication Comparisons
Compare medications used to treat Chromosome 2q23 1 Deletion Syndrome C3277090. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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 20, 2026. · Read our editorial policy