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Disease Profile

ADNP syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

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 noninherited (de novo) ADNP gene mutation. ADNP syndrome is thought to be one of the most common causes of non-inherited genetic autism.[1]

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.

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.
    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
    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.

    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.

    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

          References

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

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