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| Disease found: | 7q11.23 duplication syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Random mutation and autsomal dominant disorder caused by duplicated genetic material from chromosome 7. [more info] |
| Signs and Symptoms: | Motor, speech and language delay, behavior problems, intellectual disability, hypotonia, macrocephaly, facial dysmorphism, seizures, brain abnormalities, and aortic dilatation [more info] |
| Diagnosis: | Genomic testing methods that determine the copy number of sequences can include chromosomal microarray (CMA) or targeted duplication analysis. [more info] |
| Treatment: | Seizures treated with ASM [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: | Few studies currently recruiting |