Highlight text to provide feedback
| Disease found: | 16p11.2 deletion syndrome |
| Current as of: | Mon Sep 16 2024 |
| Disease Overview: | Inherited or random mutation disorder caused by missing information on a specific region of chromosome 16 designated as p11.2 causing mental and physical development deficits. [more info] |
| Signs and Symptoms: | Mental deficits (autistic behavior, behavior abnormality, delayed speech, ADHD, intellectual disability) and physical deficits/manifestations (motor delay, global developmental delay, macrocephaly, brain imaging abnormality, epilepsy, obesity) [more info] |
| Diagnosis: | Genetic testing using chromosomal microarray (CMA), exome/genome sequencing with copy number variant calling, or targeted deletion analysis [more info] |
| Treatment: | Epilepsy is treated with anti-seizure medication (ASM). [more info] |
| Clinical Management: | Multidisciplinary management is needed including therapy and various specialties [more info] |
| Referral: | No physician specialist available for 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: | Multiple clinical trial currently recruiting |