Overview
Helsmoortel-Van der Aa syndrome (HVDAS), also known as ADNP syndrome, is a rare genetic condition caused by changes (mutations) in the ADNP gene. This gene plays an important role in brain development and function. The syndrome is one of the more common single-gene causes of autism spectrum disorder and intellectual disability. Children with this condition typically show developmental delays early in life, including delays in sitting, walking, and talking. Most individuals have intellectual disability that ranges from mild to severe, and many are diagnosed with autism spectrum disorder. Other common features include distinctive facial characteristics, feeding difficulties in infancy, low muscle tone (hypotonia), and behavioral challenges. Some children may also have vision problems, heart defects, early tooth eruption, and hormonal issues. There is currently no cure for Helsmoortel-Van der Aa syndrome. Treatment focuses on managing individual symptoms through therapies such as speech therapy, occupational therapy, physical therapy, and behavioral support. Research into targeted treatments, including a compound called NAP (davunetide or ketamine-related therapies), is ongoing and offers hope for future disease-modifying options. Early intervention with supportive therapies can significantly improve quality of life and developmental outcomes for affected individuals.
Also known as:
Key symptoms:
Intellectual disabilityAutism spectrum disorder or autistic featuresDelayed speech and language developmentLow muscle tone (floppiness)Delayed motor milestones like walkingFeeding difficulties in infancyDistinctive facial featuresBehavioral challenges including hand flapping or repetitive behaviorsSleep disturbancesEarly eruption of baby teethVision problems such as strabismus (crossed eyes)Heart defects present at birthGastrointestinal problems including constipation and refluxHormonal issues such as early or delayed pubertySeizures in some individuals
Clinical phenotype terms (50)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Helsmoortel-Van der Aa syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Helsmoortel-Van der Aa syndrome at this time.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Helsmoortel-Van der Aa syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What specific ADNP mutation does my child have, and does it affect the expected severity?,What therapies should we start right away, and how often should they occur?,Should my child have a heart evaluation, eye exam, or hormone testing?,Are there any clinical trials or emerging treatments we should know about?,What seizure warning signs should I watch for, and what should I do if one occurs?,How can we best support communication — should we consider AAC devices?,What is the recommended schedule for follow-up appointments with different specialists?
Common questions about Helsmoortel-Van der Aa syndrome
What is Helsmoortel-Van der Aa syndrome?
Helsmoortel-Van der Aa syndrome (HVDAS), also known as ADNP syndrome, is a rare genetic condition caused by changes (mutations) in the ADNP gene. This gene plays an important role in brain development and function. The syndrome is one of the more common single-gene causes of autism spectrum disorder and intellectual disability. Children with this condition typically show developmental delays early in life, including delays in sitting, walking, and talking. Most individuals have intellectual disability that ranges from mild to severe, and many are diagnosed with autism spectrum disorder. Other
How is Helsmoortel-Van der Aa syndrome inherited?
Helsmoortel-Van der Aa syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Helsmoortel-Van der Aa syndrome typically begin?
Typical onset of Helsmoortel-Van der Aa syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat Helsmoortel-Van der Aa syndrome?
18 specialists and care centers treating Helsmoortel-Van der Aa syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.