Living with ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
A genetic condition with intellectual disability, autism, delayed speech and movement, and distinctive facial features.
Understanding ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Hallmark features are intellectual disability (mild to severe) and autism spectrum disorder. Speech and movement skills such as sitting and walking are delayed, and some people never speak. Many have distinctive facial features, vision differences, low muscle tone, and feeding or digestive problems. It is noticed in infancy or childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed development
- Delayed speech and language
- Autistic behavior
- Anxiety or attention problems (ADHD)
- Acid reflux and constipation
- Low muscle tone in infancy (floppy infant)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in ADNP are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with ADNP Kids Research Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ADNP gene cause this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder; adnp syndrome; adnp-related multiple congenital anomalies, intellectual disability, autism spectrum disorder; adnp-related syndromic intellectual disability-autism spectrum disorder; autosomal dominant intellectual disability 28; helsmoortel-van der aa syndrome
Patient organizations
- ADNP Kids Research FoundationADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder · United States
- Simons SearchlightADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder · United States
You are more than your diagnosis
Perspectives from people navigating life with ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder.
Explore research for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Explore actively recruiting ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder studies with HealthSpark.
Find actively recruiting studies for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.