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| Disease found: | 22q11.2 deletion syndrome |
| Current as of: | October 8, 2024 |
| 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. [more info] |
| Signs and Symptoms: | Various physical (Abnormal facial shape, Abnormal pulmonary valve morphology, cleft palate, heart defects, conductive hearing impairment, scoliosis), hormonal/hematological (kidney abnormalities, hypoparathyroidism, thrombocytopenia, frequent infections), and mental disabilities (Dysphasia, developmental delay, and learning disabilities, feeding difficulty) [more info] |
| Diagnosis: | Chromosomal microarray analysis or other genomic analyses. [more info] |
| Treatment: | Treatment is based on symotoms and can sometimes require surigcal intervention. Infections are treated aggressively. [more info] |
| Clinical Management: | Appropriate referral to specialists/therapy, surigcal management, and infection management [more info] |
| Referral: | 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: | Numerous studies to sign up for here |