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| Disease found: | 8q12 microduplication syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features [more info] |
| Signs and Symptoms: | Duane anomaly, developmental delay, hypotonia, hearing impairment, long palpebral fissure, ventricular septal defect, atrail septal defect [more info] |
| Diagnosis: | Chromosomal microarray (CMA) [more info] |
| Treatment: | Supportive Therapy Only [more info] |
| Clinical Management: | Specialist referrals and therapy [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 |