ADNP syndrome

Title

Other Names:

ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS; Helsmoortel-van der Aa Syndrome

Summary Summary

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.[1] 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.[1]

Last updated: 2/18/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Delayed speech and language development	Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ]	0000750
Impaired social interactions	Impaired social interaction Poor social interactions [ more ]	0000735
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Urinary incontinence	Loss of bladder control	0000020
30%-79% of people have these symptoms
Abnormal temper tantrums		0025160
Anxiety	Excessive, persistent worry and fear	0000739
Attention deficit hyperactivity disorder	Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ]	0007018
Chronic constipation	Infrequent bowel movements	0012450
Gastroesophageal reflux	Acid reflux Acid reflux disease Heartburn [ more ]	0002020
Infantile muscular hypotonia	Decreased muscle tone in infant	0008947
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Moderate global developmental delay		0011343
Obsessive-compulsive behavior	Obsessive compulsive behavior	0000722
Oral-pharyngeal dysphagia		0200136
Polyphagia	Voracious appetite	0002591
Severe global developmental delay		0011344
5%-29% of people have these symptoms
Abnormal heart morphology	Abnormality of the heart Abnormally shaped heart Heart defect [ more ]	0001627
Abnormality of cardiovascular system morphology		0030680
Abnormality of the nail		0001597
Advanced eruption of teeth	Early eruption of teeth	0006288
Aggressive behavior	Aggression Aggressive behaviour Aggressiveness [ more ]	0000718
Aspiration		0002835
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
Bilateral ptosis	Drooping of both upper eyelids	0001488
Cerebral atrophy	Degeneration of cerebrum	0002059
Cerebral visual impairment		0100704
Developmental regression	Loss of developmental milestones Mental deterioration in childhood [ more ]	0002376
Focal white matter lesions		0007042
Gastrostomy tube feeding in infancy		0011471
High anterior hairline	High frontal hairline	0009890
Hypermetropia	Farsightedness Long-sightedness [ more ]	0000540
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Impaired mastication	Chewing difficulties Chewing difficulty Difficulty chewing [ more ]	0005216
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Microtia	Small ears Underdeveloped ears [ more ]	0008551
Mild global developmental delay		0011342
Plagiocephaly	Flat head syndrome Flattening of skull Rhomboid shaped skull [ more ]	0001357
Polydactyly	More than five fingers or toes on hands or feet	0010442
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Recurrent upper respiratory tract infections	Recurrent colds	0002788
Recurrent urinary tract infections	Frequent urinary tract infections Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Sandal gap	Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and second toe [ more ]	0001852
Seizure		0001250
Short stature	Decreased body height Small stature [ more ]	0004322
Single transverse palmar crease		0000954
Slanting of the palpebral fissure	Slanting of the opening between the eyelids	0200006
Sleep disturbance	Difficulty sleeping Trouble sleeping [ more ]	0002360
Smooth philtrum		0000319
Thick lower lip vermilion	Prominent lower lip Increased volume of lower lip Plump lower lip [ more ]	0000179
Thin upper lip vermilion	Thin upper lip	0000219
Trigonocephaly	Triangular skull shape Wedge shaped skull [ more ]	0000243
Truncal obesity		0001956
Ventriculomegaly		0002119
Vomiting	Throwing up	0002013
Wide intermamillary distance	Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ]	0006610
1%-4% of people have these symptoms
2-3 toe syndactyly	Webbed 2nd and 3rd toes	0004691
Amblyopia	Lazy eye Wandering eye [ more ]	0000646
Brachycephaly	Short and broad skull	0000248
Brachydactyly	Short fingers or toes	0001156
Broad hallux	Broad big toe Wide big toe [ more ]	0010055
Broad nasal tip	Broad tip of nose Broad, upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide Wide tip of nose [ more ]	0000455
Broad thumb	Broad thumbs Wide/broad thumb [ more ]	0011304
Coarse facial features	Coarse facial appearance	0000280
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Everted lower lip vermilion	Drooping lower lip Outward turned lower lip [ more ]	0000232
Exotropia	Outward facing eye ball	0000577
Eyelid coloboma	Cleft eyelid Notched eyelid [ more ]	0000625
Generalized neonatal hypotonia	Generalized low muscle tone in neonate	0008935
Growth hormone deficiency		0000824
Hirsutism	Excessive hairiness	0001007
Hypertonia		0001276
Inguinal hernia		0000023
Iris coloboma	Cat eye	0000612
Juvenile cataract		0001118
Long palpebral fissure	Broad opening between the eyelids Long opening between the eyelids Wide opening between the eyelids [ more ]	0000637
Long philtrum		0000343
Low-set, posteriorly rotated ears		0000368
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Narrow palpebral fissure	Small opening between the eyelids	0045025
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Sparse scalp hair	Reduced/lack of hair on scalp Scalp hair, thinning Sparse, thin scalp hair sparse-absent scalp hair [ more ]	0002209
Umbilical hernia		0001537
Wide mouth	Broad mouth Large mouth [ more ]	0000154
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431
Widely spaced teeth	Wide-spaced teeth Widely-spaced teeth [ more ]	0000687
Percent of people who have these symptoms is not available through HPO
Autistic behavior		0000729
Autosomal dominant inheritance		0000006
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Global developmental delay		0001263
Hyperactivity	More active than typical	0000752
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Language impairment		0002463
Obesity	Having too much body fat	0001513
Ptosis	Drooping upper eyelid	0000508
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Small hand	Disproportionately small hands	0200055
Stereotypy	Repetitive movements Repetitive or self-injurious behavior [ more ]	0000733
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505

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Last updated: 7/1/2020

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Some similarities are found with Okihiro syndrome plus developmental delay, Angelman syndrome, Rett syndrome, Noonan syndrome, Kleefstra syndrome, Smith-Magenis syndrome, and other Coffin-Siris syndrome related disorders. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The ADNP Kids Research Foundation provides information about current and future research studies involving individuals and families affected by ADNP syndrome.
ClinicalTrials.gov lists trials that are related to ADNP syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
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/

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with ADNP syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for ADNP syndrome:
Simons SearchLight

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

ADNP Kids Research Foundation
E-mail: ADMIN@adnpfoundation.org
Website: https://www.adnpfoundation.org/

Social Networking Websites

Visit the following Facebook groups related to ADNP syndrome:
ADNPkids International Family Support Group
ADNP Kids - ADNP neuro-genetic related Autism syndrome
ADNP Kids Research Foundation
ADNP: Simons VIP Connect Community

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The ADNP Kids Research Foundation provides detailed information about ADNP syndrome.
Genetics Home Reference (GHR) contains information on ADNP syndrome. This website is maintained by the National Library of Medicine.
Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about ADNP syndrome.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

Selected Full-Text Journal Articles

Gozes I et al. The Compassionate Side of Neuroscience: Tony Sermone’s Undiagnosed Genetic Journey—ADNP Mutation. J Mol Neurosci. 2015 Aug;56(4):751-7.
Vandeweyer G et al., 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.
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.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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References References

ADNP syndrome. ADNP Kids. http://adnpkids.weebly.com/. Accessed 3/7/2016.

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