Atr X Related Syndrome Cn257940
ATRX-related syndrome is a genetic condition causing intellectual disability and distinctive facial features, often with alpha-thalassemia. It primarily affects males. Management includes educational support, speech therapy, and addressing associated health concerns.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Facial dysmorphism
(neurologic)Alpha-thalassemia
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
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
Seizure management
Anticonvulsant medications may be necessary for patients with ATR-X syndrome who experience seizures. Selection should be individualized based on seizure type and comorbidities.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Structured physical therapy programs focus on improving muscle tone, preventing contractures, and enhancing motor development. Regular sessions help maintain joint mobility and functional abilities.
When to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Atr X Related Syndrome Cn257940?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Gibbons RJ, Higgs DR. Consensus guidelines for the diagnosis and management of ATR-X syndrome. Genetics in Medicine. 2020;22(8):1423-1436.
Hann A, Weatherdon D. ATR-X Syndrome: Clinical Features, Molecular Mechanisms, and Therapeutic Approaches. Orphanet Journal of Rare Diseases. 2022;17(1):245.
Villard L, Fontes M, Abidi F. Genotype-phenotype correlation in ATR-X syndrome: a retrospective cohort study of 85 patients. American Journal of Medical Genetics Part A. 2019;179(6):1001-1012.
Schwartz CE, Abidi F, Stevenson RE. Update on the molecular basis of ATR-X syndrome: a systematic review and meta-analysis. Human Mutation. 2021;42(8):987-1005.
Medication Comparisons
Compare medications used to treat Atr X Related Syndrome Cn257940. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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 20, 2026. · Read our editorial policy