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| Disease found: | 8p23.1 duplication syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8. [more info] |
| Signs and Symptoms: | Developmental delay, prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip/palate, atrioventricular septal defect, macrocephaly, attention deficit disorder, hypotonia [more info] |
| Diagnosis: | Chromosomal microarray (CMA) or targeted duplication analysis. [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 |