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| Disease found: | 16p11.2 deletion syndrome |
| Current as of: | Thu Nov 21 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. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Multiple clinical trial currently recruiting |