Global InformationADNP syndrome information
| ADNP syndrome | |
|---|---|
| Other names | Helsmoortel Van der Aa syndrome, HVDAS |
| Specialty | Medical genetics, pediatrics |
| Symptoms | Delayed development, characteristic physical features, mild to moderate intellectual disability |
| Onset | Conception (but may be detected in early childhood) |
| Duration | Lifelong |
| Causes | De novo mutation in the ADNP gene |
| Diagnostic method | Genetic testing |
| Treatment | Physical therapy, Occupational therapy, Speech therapy, Educational support |
| Frequency | Unknown as of yet – there are approximately 300 known cases |
ADNP syndrome, also known as Helsmoortel-Van der Aa syndrome (HVDAS), is a non-inherited neurodevelopmental disorder caused by mutations in the activity-dependent neuroprotector homeobox (ADNP) gene.[1][2]
The hallmark features of the syndrome are intellectual disability, global developmental delays, global motor planning delays, and autism spectrum disorder (ASD) or autistic features. Although ADNP syndrome was only identified in 2014, it is projected to be one of the most frequent single-gene causes of ASD.[3]
By June 2022, just over 275 children have been registered in the ADNP Kids Research Foundation Contact Registry.[4]
- ^ Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, et al. (February 2019). "Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP". Biological Psychiatry. 85 (4): 287–297. doi:10.1016/j.biopsych.2018.02.1173. PMC 6139063. PMID 29724491.
- ^ "ADNP syndrome: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-09-07.
- ^ "ADNP Syndrome - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2023-04-21.
- ^ "ADNP syndrome (Helsmoortel-VanderAa syndrome (HVDAS))" (PDF). rarechromo.org. Unique. 2022. Retrieved 2023-04-19.