Primary care
Recommendation 1
Appropriate referral to specialists/therapy, surigcal management, and infection management
22q11.2 deletion syndrome
Not yet reviewedThis information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.
Disease overview
Autosomally dominantly inherited or random disorder caused by a deletion of a small part of chromosome 22 near the middle of the chromosome at a location known as q11.2.
Common symptoms
Various physical (Abnormal facial shapeAbnormal pulmonary valve morphologycleft palateheart defectsconductive hearing impairmentscoliosis)hormonal/hematological (kidney abnormalitieshypoparathyroidismthrombocytopeniafrequent infections)and mental disabilities (Dysphasiadevelopmental delayand learning disabilitiesfeeding difficulty)
When to suspect
Recommendation 1
Chromosomal microarray analysis or other genomic analyses.
How to test
Recommendation 1
Chromosomal microarray analysis or other genomic analyses.
ZebraMD is partnering with Ambry Genetics for clinical-grade whole genome testing for rare diseases. Ambry accepts insurance. If you don’t have a physician to order this test, join our referral list and our team will reach out.
Treatment
Recommendation 1
Treatment is based on symotoms and can sometimes require surigcal intervention. Infections are treated aggressively.
Further support
Recommendation 1
The International 22q11.2 Foundations suggests various clinicians and clinics. . Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.
Clinical trials
Clinical Trials
Sources
No data available
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