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| Disease found: | 3q29 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Random (non-inhertied) disorder caused by the loss of a small piece of DNA in one copy of chromosome 3 [more info] |
| Signs and Symptoms: | Delay reaching developmental milestones such as sitting, walking or talking, frequent ear and respiratory infections, microcephaly, cleft lip/palate, autism [more info] |
| Diagnosis: | 3q29 deletions are identified by chromosomal microarray (CMA) analysis. [more info] |
| Treatment: | Surgeries to repair any physical abnormalities, speech therapy, behavior therapy and special education. [more info] |
| Clinical Management: | Surgeries and appropriate specialist/therapist referrals [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: | One clinical trial currently recruiting |