ADNP syndrome
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13
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.
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.
By June 2022, just over 275 children had been registered in the ADNP Kids Research Foundation Contact Registry.
Signs and symptoms
Symptoms of ADNP syndrome are variable, but the following are typical characteristics:
Severe speech and motor delay
Mild-to-severe intellectual disability
Characteristic facial features (prominent forehead, high hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip)
Features of autism spectrum disorder
Hypotonia
Other commonly observed traits include:
Behavioral problems
Sleep disturbance
Brain abnormalities
Seizures
Feeding issues
Gastrointestinal problems
Visual dysfunction (hypermetropia, strabismus, cortical visual impairment)
Musculoskeletal anomalies
Endocrine issues including short stature and hormonal deficiencies
Cardiac and urinary tract anomalies
Hearing loss
Early tooth eruption
Almost all children with ADNP syndrome have speech delay. The average age for first words has been observed to be 30 months, with a range of 7 to 72 months. Some individuals studied did not develop any language skills. Children with ADNP syndrome show some degree of intellectual disability. The degree can range from mild (roughly 1 in 8 children) to severe (roughly half of children). Toilet training is delayed in most children. Loss of previously acquired skills was reported in one fifth of children.
This brief starts where responsible research should: with the source description of “ADNP syndrome” as autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. Everything that follows is an evidence route, not borrowed authority.
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The subject matters to the general reference register because the source frames it as autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. Its deeper value depends on whether names, dates, institutions and citations support that framing.
Vocabulary and entity names are the principal evidence signals here, because they determine the precision of every later search. The source revision retrieved here is dated May 20, 2026. The linked authority identifier is Q50349632. None of the 0 selected statements returned an explicit reference. The first chronological checks are 2014 and 2022.
The absence of detail may reflect summary conventions rather than a lack of surviving documentation. The source lead contains qualifying language; that uncertainty should survive quotation, summary and reuse. Authority statements aid reconciliation but still require their own references, qualifiers and ranks to be checked.
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This entry incorporates text from “ADNP syndrome” on English Wikipedia. Contributors are listed in the page history. Text is available under the Creative Commons Attribution-ShareAlike 4.0 License. Selected authority identifiers and statements are retrieved from Wikidata under CC0; their references and qualifiers remain part of the verification path.