ADNP syndrome
Last updated 13 Jul 2023
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
ADNP syndrome is a condition that causes a wide variety of signs and symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, which is characterised by impaired communication and social interaction. Affected individuals also have distinctive facial features and abnormalities of multiple body systems.
Description
ADNP syndrome is a condition that causes a wide variety of signs and symptoms. Its hallmark features are intellectual disability and autism spectrum disorder, which is characterised by impaired communication and social interaction. Affected individuals also have distinctive facial features and abnormalities of multiple body systems.
Individuals with ADNP syndrome have mild to severe intellectual disability and delayed development of speech and motor skills such as sitting and walking. Some affected individuals are never able to speak. People with this disorder exhibit characteristics typical of autism spectrum disorder, including repetitive behaviors and difficulty with social interactions. ADNP syndrome is also associated with mood disorders or behavioural problems, such as anxiety, temper tantrums, attention-deficit/hyperactivity disorder (ADHD), obsessive-compulsive disorder, or sleep problems.
Many people with ADNP syndrome have distinctive facial features, which most commonly include a prominent forehead, a high hairline, outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures), droopy eyelids (ptosis), a broad nasal bridge, and a thin upper lip. These individuals may also have unusually shaped ears or hand and finger abnormalities. Eye and vision abnormalities, such as eyes that do not point in the same direction (strabismus) and farsightedness (hyperopia), also occur in ADNP syndrome. Some people with this condition have early appearance (eruption) of primary (baby) teeth.
Some people with ADNP syndrome have weak muscle tone (hypotonia) and feeding difficulties in infancy. They may also have digestive system problems, such as backflow of stomach acids into the esophagus (gastroesophageal reflux), vomiting, and constipation. Other features that occur in ADNP syndrome include obesity, seizures, and heart abnormalities.
Inheritance patterns
The source lists the following possible inheritance patterns: Not inherited. More than one pattern can apply in different cases.
Related genes
Other names
ADNP-related intellectual disability and autism spectrum disorder
ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
Helsmoortel-van der Aa syndrome
HVDAS
Mental retardation, autosomal dominant 28
MRD28
Related patient information and medicines
Patient information leaflet
Osler-Weber-Rendu syndrome
Osler-Weber-Rendu syndrome is a disorder of the blood vessels that can cause excessive bleeding. Osler-Weber-Rendu syndrome is also called hereditary haemorrhagic telangiectasia. The abnormal blood vessels can cause bleeding both into the skin and inside your body. What is Osler-Weber-Rendu syndrome. People with Osler-Weber-Rendu syndrome can.
Patient information leaflet
Compartment syndrome
Compartment syndrome occurs due to increased pressure within a confined space, or compartment, in the body. It can occur in the hand, the forearm, the upper arm, the buttocks, the leg, the foot and the tummy (abdomen). Acute compartment syndrome (occurring over a short period of time, and causing severe symptoms) is an emergency. This leaflet.
Patient information leaflet
Sleep apnoea
If you have sleep apnoea (also known as obstructive sleep apnoea syndrome), you have many periods when your breathing stops for 10 seconds or more when you sleep. The most common sleep apnoea, which occurs when there is a functional obstruction in the mouth and throat, is called obstructive sleep apnoea syndrome... This leaflet focuses on.
Patient information leaflet
Antiphospholipid syndrome
Antiphospholipid syndrome is sometimes called Hughes' syndrome. It is a disease that affects the blood and makes it more likely to clot than normal - a thrombophilia. What is antiphospholipid syndrome. Antiphospholipid syndrome (APS) - also called Hughes' syndrome - makes blood more likely than normal to clot (a thrombophilia ). This increases the.
Patient information leaflet
Cushing's syndrome
Cushing's syndrome is caused by too high a level of glucocorticoid in the body. This can be caused by taking steroid medication long-term (the common cause) or by the body making too much cortisol (the main glucocorticoid made by the body). There are various reasons why the body may produce too much cortisol, and complex tests may be needed to.
Patient information leaflet
Tourette syndrome
Tourette syndrome is a condition that causes you to make involuntary movements or noises called tics. It tends to be associated with various other problems such as behavioural problems and attention deficit hyperactivity disorder (ADHD). It can often be well managed with psychological treatments and sometimes with medication. Simple motor tics are.
Further reading and references
- ADNP syndrome; MedlinePlus, National Library of Medicine.
- Gozes I, Van Dijck A, Hacohen-Kleiman G, Grigg I, Karmon G, Giladi E, Eger M, Gabet Y, Pasmanik-Chor M, Cappuyns E, Elpeleg O, Kooy RF, Bedrosian-Sermone S. Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children. Transl Psychiatry. 2017 Feb 21;7(2):e1043. doi: 10.1038/tp.2017.27.
- Harutyunyan L, Kooy RF, D'Incal CP, Van Dijck A. ADNP-Related Helsmoortel-Van der Aa Syndrome. 2016 Apr 7 [updated 2025 Aug 21]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK355518/
- Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Anneren G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16.
- Krajewska-Walasek M, Jurkiewicz D, Piekutowska-Abramczuk D, Kucharczyk M, Chrzanowska KH, Jezela-Stanek A, Ciara E. Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene. Am J Med Genet A. 2016 Jun;170(6):1647-50. doi: 10.1002/ajmg.a.37641. Epub 2016 Mar 31. No abstract available.
- Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. J Med Genet. 2014 Sep;51(9):587-9. doi: 10.1136/jmedgenet-2014-102444. Epub 2014 Jul 23. No abstract available.
- Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):315-26. doi: 10.1002/ajmg.c.31413. Epub 2014 Aug 28.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.