22q11 2 Deletion Syndrome Cn294181
A genetic condition where a small piece of chromosome 22 is missing. It can affect the heart, immune system, and development. Treatment involves managing symptoms across multiple specialties.
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
Congenital heart defects
Structural heart abnormalities including tetralogy of Fallot, ventricular septal defects, and truncus arteriosus.
Immediately; requires cardiac evaluation and possible surgical intervention in infancy.
Hypocalcemia
Low blood calcium levels due to parathyroid gland dysfunction, causing muscle cramps, tingling, and seizures.
Seek emergency care if experiencing seizures, severe muscle spasms, or difficulty breathing.
Distinctive facial features
(constitutional)Characteristic facial appearance including wide-set eyes, small ears, nasal anomalies, and thin lips.
Frequency: 80-90% of patients
Recurrent infections
(immunologic)Increased susceptibility to viral, bacterial, and fungal infections due to thymic hypoplasia and immune deficiency.
Frequency: 75-80% of patients
Cleft palate
(gastrointestinal)Opening in the roof of the mouth that can affect feeding and speech development.
Frequency: 30-40% of patients
Developmental delays
(neurologic)Delayed motor skills, speech, and language development; learning disabilities are common.
Frequency: 70-80% of patients
Renal anomalies
(genitourinary)Kidney abnormalities including absent, small, or malformed kidneys; increased risk of urinary tract infections.
Frequency: 30-35% of patients
Psychiatric symptoms
(psychiatric)Increased risk of schizophrenia, anxiety disorders, and depression, often emerging in adolescence or adulthood.
Frequency: 25-30% of patients
Thrombocytopenia
(hematologic)Low platelet count causing easy bruising, bleeding gums, and prolonged bleeding from cuts.
Frequency: 10-15% 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
Comprehensive lifelong surveillance program
Regular monitoring for multi-system manifestations including cardiac, immunological, endocrine, and neuropsychiatric features of 22q11.2 deletion syndrome. Annual comprehensive evaluations recommended.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Palatal reconstruction and ENT intervention
Surgical repair of cleft palate and management of velopharyngeal insufficiency to improve speech and feeding function. ENT evaluation for middle ear disease and hearing loss is essential.
Additional treatment options
Neuropsychiatric care and cognitive support
Integrated mental health care addressing anxiety disorders, depression, psychotic symptoms, and cognitive challenges. Combines medication management with psychotherapy and educational/vocational support.
psychologicalNutritional and metabolic support
Dietary management addressing feeding difficulties, failure to thrive in infancy, and metabolic concerns including hypocalcemia. May include specialized formulas, feeding therapy, and supplementation.
complementaryMotor development and physical rehabilitation
Therapeutic interventions addressing hypotonia, motor coordination difficulties, and joint hypermobility. Focuses on strength building, balance training, and functional independence.
physical_therapyWhen 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 22q11 2 Deletion Syndrome Cn294181?
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, et al. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome). Nat Rev Dis Primers. 2021.
American Academy of Pediatrics Council on Children with Disabilities. Clinical practice guidelines for the evaluation and management of infants with 22q11.2 deletion syndrome. Pediatrics. 2023.
GeneReviews: 22q11.2 Deletion Syndrome. University of Washington, Seattle. Updated 2024.
Fung WLA, Butcher NJ, Costain G, et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Am J Med Genet A. 2015;167A(8):1753-1765.
Vergaelen E, De Smedt B, Van De Walle P, et al. A prospective study on the cognitive and behavioral phenotype of 22q11.2 deletion syndrome in children and adolescents. J Clin Psychiatry. 2020.
American College of Medical Genetics and Genomics. Clinical genetics testing for 22q11.2 deletion syndrome: ACMG practice resource. Genet Med. 2022.
Bassett AS, McDonald-McGinn DM, Devriendt K, et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2):332-339.e1.
Boot E, Butcher NJ, van Duin E, et al. Psychiatric disorders and educational outcomes in 22q11.2 deletion syndrome. Schizophr Bull. 2023;49(2):298-309.
International Society for Chromosome 22q11.2 Deletion Syndrome. Consensus statement on the management of congenital heart disease in 22q11.2 deletion syndrome. 2020.
Medication Comparisons
Compare medications used to treat 22q11 2 Deletion Syndrome Cn294181. 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