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| Disease found: | 16q24.3 microdeletion syndrome |
| Current as of: | Thu Nov 21 2024 |
| Disease Overview: | Inherited or random mutation disorder caused by microdeletion on the 24.3 region chromosome 16 causing autism, intellectual disabilities and physical development deficits. [more info] |
| Signs and Symptoms: | Autism, intellecual disability, and physical deficits/manifestations (high forehead, protruding ear, colpocephaly, frontal bossing, high palate, hypoplasia of corpus collosum) [more info] |
| Diagnosis: | Genetic testing using comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH) [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Various forms of therapy |
| 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 is available, but can sign up to be notified when one becomes available |