Chromosome 22q11 2 Deletion Syndrome Distal C2678480
A genetic condition where a small piece of chromosome 22 is missing. It can affect heart structure, development, and immune function. Treatment addresses specific health concerns as they arise.
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.
Congenital heart defect
(cardiovascular)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Cleft palate
(craniofacial)Developmental delay
(neurological)Hypocalcemia
(endocrine)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
Immunological assessment and infection prophylaxis
Distal 22q11.2 deletion syndrome involves immune deficiency requiring evaluation of T-cell function and immunoglobulin levels. Infectious disease specialists guide preventive measures and treatment of recurrent infections.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac surgery for structural defects
Cardiac manifestations require surgical intervention when structural defects cause hemodynamic compromise. Congenital heart surgeons with experience in deletion syndromes perform necessary repairs.
When 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 22q11 2 Deletion Syndrome Distal C2678480?
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.
McDonald-McGinn DM, Sullivan KE, Bassett AS. Chromosome 22q11.2 deletion syndrome: an update for clinicians and researchers. Genet Med. 2022.
Fung WL, Butcher NJ, Costain G, et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. 2015.
Van L, Heung T, Graffi J, et al. Neurodevelopmental outcomes in children with 22q11.2 deletion syndrome: a longitudinal cohort study. Lancet Psychiatry. 2021.
Swilliams JE, Zhang SX, Coccetti F, et al. Psychiatric manifestations in 22q11.2 deletion syndrome: systematic review and meta-analysis. Mol Psychiatry. 2020.
Medication Comparisons
Compare medications used to treat Chromosome 22q11 2 Deletion Syndrome Distal C2678480. 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