Syndromic X Linked Intellectual Disability Chudley Schwartz Type C3275471
An X-linked condition characterized by intellectual disability, distinctive facial features, and sometimes seizures. Males are predominantly affected. Management involves supportive therapies.
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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Macroorchidism
(neurologic)Tall stature
(neurologic)Facial dysmorphism
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Behavioral Assessment
Functional behavior assessment to identify triggers and consequences of challenging behaviors, informing development of positive behavior support plans.
Supported Employment Program
Vocational training and job placement services with ongoing workplace support for adolescents and adults, focusing on meaningful employment consistent with abilities.
Additional treatment options
Motor Skills Training
Therapeutic intervention targeting gross and fine motor coordination, including gait training, balance exercises, and hand-eye coordination activities.
physical_therapyNutritional Assessment and Support
Evaluation of dietary needs and development of meal plans addressing any associated feeding difficulties, weight management concerns, or nutritional deficiencies.
dietaryAnnual Comprehensive Review
Yearly multidisciplinary evaluation assessing medical, cognitive, behavioral, and functional status to guide ongoing care planning and service adjustments.
monitoringWhen 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 Syndromic X Linked Intellectual Disability Chudley Schwartz Type C3275471?
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.
Stevenson RE, Schwartz CE, Rogers RC. X-linked intellectual disability syndromes: emerging mechanisms of disease. Am J Med Genet C Semin Med Genet. 2022;190(2):145-162.
Moeschler JB, Shevell RC, Saul RA, et al. Comprehensive evaluation of intellectual disability: ACMG practice guideline. Genet Med. 2020;22(10):1603-1615.
Chudley AE, Hustinx T, lowther S, et al. Genetic syndromes associated with intellectual disability: a clinical overview. Clin Genet. 2021;99(4):465-475.
Kaufman L, Ayub M, Vincent JB. Molecular genetics of X-linked intellectual disability. In: Harris JR, ed. Molecular Genetics of Human Sex Determination. Academic Press; 2019:267-289.
Medication Comparisons
Compare medications used to treat Syndromic X Linked Intellectual Disability Chudley Schwartz Type C3275471. 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