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Don’t fight ADNP syndrome alone.
Find your community on the free RareGuru App.ADNP syndrome , also known as Helsmoortel-van der Aa syndrome, is a complex neuro-developmental disorder that affects the brain and many other areas and functions of the body. ADNP syndrome can affect muscle tone, feeding, growth, hearing, vision, sleep, fine and gross motor skills, as well as the immune system, heart, endocrine system, and gastrointestinal tract. ADNP syndrome causes behavior disorders such as Autism Spectrum Disorder (ASD). ADNP is caused by a non-inherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.
Source: GARD Last updated on 05-01-20
The ****Simons Variation in Individuals Project (Simons VIP) is an online community that supports families with rare genetic changes (also called “genomic variants”) associated with features of autism and developmental delay. Simons Searchlight provides access to resources, information, and family support. They also provide an opportunity for families to participate in research. Simons Searchlight is actively enrolling people with ADNP gene mutations.
Simons Searchlight
E-mail:
coordinator@simonssearchlight.org
Phone: 855-329-5638
Web site:
https://www.simonssearchlight.org/
Last updated on 04-27-20
Helsmoortel C et al., A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014 Apr;46(4):380-4.
Last updated on 04-27-20
The ADNP Kids Research Foundation provides detailed information about ADNP syndrome.
Last updated on 04-27-20
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