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| Disease found: | 16p11.2 duplication |
| Current as of: | Thu Nov 21 2024 |
| Disease Overview: | Autosomal dominant or random mutation disorder caused by duplication on the 11.2 region of long arm of chromosome 16 causing varying mental and physical development deficits. [more info] |
| Signs and Symptoms: | Mental deficits/manifestations (delayed speech development, autism spectrum disorder, intellectual disability, motor delay, anxiety, ADHD, OCD) and physical deficits/manifestations (Arachnodactyly, decreased body mass index, deeply set eyes, microcephaly, flat face, hypertelorism, hyporeflexia, hypotonia, microtia, short stature) [more info] |
| Diagnosis: | Genetic testing using chromosomal microarray (CMA) and fluorescence in situ hybridization (FISH) can detect 16p11.2 duplication [more info] |
| Treatment: | Supportive Treatment Only [more info] |
| Clinical Management: | Medicinal management and therapy can aid in long term management [more info] |
| Referral: | Physicians do not 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: | Clinical trials currently recruiting |