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| Disease found: | 16q24.3 microdeletion syndrome |
| Current as of: | Mon Sep 16 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. TeleRare Health for virtual care and consults is also recommended. |
| Clinical Trials: | None is available, but can sign up to be notified when one becomes available |