Chromosome 2q32 Q33 Deletion Syndrome C2676739
A chromosomal deletion involving a segment of chromosome 2. It commonly causes growth retardation, intellectual disability, and distinctive facial features. Care focuses on addressing developmental needs and managing associated health concerns.
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
Congenital heart defect
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Cleft palate
(craniofacial)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
Cardiac Screening Program
Echocardiogram and electrocardiogram screening for congenital heart defects commonly associated with 2q32-q33 chromosomal deletions with ongoing cardiac surveillance.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Additional treatment options
Feeding Difficulties Management
Nutritional assessment and specialized feeding support for oral motor dysfunction and growth concerns common in this chromosomal deletion.
dietaryBehavioral Intervention Program
Behavioral therapy addressing autism spectrum features, anxiety, and repetitive behaviors observed in chromosome 2q32-q33 deletion syndrome.
psychologicalSeizure Management
Antiepileptic medication therapy for seizure control when EEG-confirmed epilepsy is present in individuals with this chromosomal disorder.
medicationWhen 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 2q32 Q33 Deletion Syndrome C2676739?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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