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| Disease found: | 2q23.1 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Random disorder caused by the loss of a small piece of DNA in one copy of chromosome 2, one of the 23 pairs of chromosomes in each cell in our bodies. [more info] |
| Signs and Symptoms: | Motor stereotypy, delayed speech, seizure, ataxia, brachycephaly, clinodactyly of the 5th finger, coarse facial features, constipation [more info] |
| Diagnosis: | Genetic testing: microarrays (array-CGH) or targeted cytogenetic testing using FISH [more info] |
| Treatment: | Anti-seizure medications for seizure treatment, melatonin for sleep [more info] |
| Clinical Management: | Appropriate referral to specialists and speech therapy, behavior therapy, physical, occupational therapy, and special education programs [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | None are available, but can sign up to be notified when one becomes available |