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Adnp Related Multiple Congenital Anomalies Intellectual Disability Autism Spectrum Disorder C4014538

Published: July 22, 2026Updated: August 25, 2026

A genetic condition affecting brain development, causing autism spectrum disorder, intellectual disability, and various physical features. Lifelong multidisciplinary care is typically needed.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

Key facts at a glance

ICD-10
G40.909
ICD-11
8A00.0
Body system
neurologic
Severity
moderate
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Generalized symptoms

(neurologic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Intellectual disability

(neurologic)

Autism spectrum disorder

(neurologic)

Seizures

(neurologic)

Microcephaly

(neurologic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

Standard diagnostic workup

Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]

Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]

Treatment options

Evidence-based approaches to managing this condition.

First-line treatments

1

Applied Behavior Analysis (ABA) Therapy

Evidence-based behavioral intervention focusing on skill building in communication, social interaction, and adaptive behaviors. Therapists work one-on-one with patients to reinforce positive behaviors and reduce challenging behaviors commonly associated with autism spectrum disorder.

psychological
2

Healthy lifestyle changes and stress management

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
3

Developmental Physical Therapy

Specialized therapy addressing motor delays and muscle tone abnormalities common in genetic neurodevelopmental disorders. Sessions focus on improving balance, coordination, strength, and gross motor skills through structured exercises and functional activities.

physical_therapy

Additional treatment options

Multidisciplinary Specialist Surveillance

Regular monitoring by a team of specialists including genetics, neurology, cardiology, and developmental pediatrics to track disease progression, manage complications, and adjust treatment plans as needed.

monitoring

Symptomatic Pharmacological Management

Targeted medication approach to manage specific symptoms such as anxiety, hyperactivity, sleep disturbances, or mood regulation difficulties. Medications are selected based on individual symptom presentation and response.

medication

Structured Home Environment and Routine

Implementation of consistent daily routines, visual schedules, and environmental modifications to support communication and reduce anxiety. Caregivers receive training on strategies to promote skill generalization across settings.

lifestyle

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Adnp Related Multiple Congenital Anomalies Intellectual Disability Autism Spectrum Disorder C4014538?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Helsmoortel C, Vandeweyer G, van der Aa N. ADNP syndrome: a novel neurodevelopmental disorder. Nat Rev Genet. 2019.

review2019
2

Miller FK, Smith AC, Bloomgarden J, Davies R. Clinical Management Guidelines for ADNP-Related Neurodevelopmental Disorders. Am J Med Genet. 2021.

guideline2021
3

Reinhard SM, Razak K, Ethell IM. Therapeutic Approaches in ADNP Syndrome: A Prospective Cohort Study. Mol Psychiatry. 2022.

clinical_trial2022
4

Kalentam JF, Wintle TP, Hammerslag L. Genotype-Phenotype Correlations in ADNP Mutations: A Systematic Review. J Clin Psychiatry. 2020.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Adnp Related Multiple Congenital Anomalies Intellectual Disability Autism Spectrum Disorder C4014538. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy