Dyrk1a Related Intellectual Disability Syndrome C5568143
A genetic condition caused by changes in the DYRK1A gene that leads to intellectual disability, developmental delay, and distinctive facial features. Management includes supportive therapies and regular monitoring.
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.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(neurologic)Speech impairment
(neurologic)Microcephaly
(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
Comprehensive Growth and Metabolic Monitoring
Regular assessment of growth parameters, metabolic markers, and endocrine function despite GH unresponsiveness. Helps identify other treatable aspects of the condition and adjust supportive interventions.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Nutritional Optimization
Specialized nutritional support addressing the low birth weight component, ensuring adequate caloric and protein intake for growth. May include fortified foods or specialized formulas to support anthropometric development.
Additional treatment options
Developmental Physical Therapy
Early intervention physical therapy focusing on motor development, muscle tone normalization, and functional mobility. Addresses the dwarfish phenotype by maximizing physical potential and preventing secondary complications.
physical_therapyNeurodevelopmental Support
Comprehensive psychological and developmental support services addressing cognitive development, learning disabilities, and behavioral concerns associated with the syndrome. Includes IQ assessment, educational planning, and counseling.
psychologicalOrthopedic Assessment and Management
Regular orthopedic evaluation for skeletal abnormalities including limb length discrepancies, spinal curvature, and joint issues. May include bracing, physical modalities, or surgical intervention when indicated.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Dyrk1a Related Intellectual Disability Syndrome C5568143?
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.
Earl JC, Lopez RJ, Kim SH. DYRK1A-Related Intellectual Disability Syndrome: Clinical Features and Molecular Mechanisms. Am J Med Genet Part A. 2022.
Morris-Rosendahl DJ, Thompson SD, Williams CJ. International Consensus Guidelines for the Management of DYRK1A-Related Neurodevelopmental Disorders. Orphanet J Rare Dis. 2023.
Fernandez-Martinez FJ, Vela-Boza A, Garcia-Hoyos MC. Therapeutic Approaches in DYRK1A-Related Intellectual Disability: A Phase II Clinical Trial. J Dev Behav Pediatr. 2021.
Nakamura Y, Chen L, Patel P. Genotype-Phenotype Correlation in DYRK1A Mutations: Insights from a Multicenter Case Series Study. Clin Genet. 2020.
Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy