Kleefstra Syndrome Due To A Point Mutation C5680724
A rare genetic condition caused by a change in a specific gene, affecting multiple body systems with intellectual disability and distinctive facial features.
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
Epilepsy
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Moderate intellectual disability
(neurologic)Motor coordination difficulties
(neurologic)Social withdrawal behavior
(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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Targeted symptom management
Pharmacological management of specific symptoms including seizures, hyperreflexia, and behavioral issues. Treatment selection is based on dominant clinical manifestations and individual response patterns.
Rehabilitative physical therapy
Comprehensive physical therapy addressing motor delays, muscle tone abnormalities, and functional limitations. Focus on maintaining range of motion, improving strength, and enhancing mobility through evidence-based techniques.
Additional treatment options
Neurodevelopmental support
Psychological services addressing cognitive delays, behavioral challenges, and emotional regulation difficulties. Cognitive behavioral approaches and environmental modifications help manage anxiety and challenging behaviors.
psychologicalOccupational therapy
Occupational therapy focusing on activities of daily living, fine motor skills, and sensory integration. Adaptive equipment and environmental modifications support independence in daily functioning.
complementaryGrowth and endocrine monitoring
Regular monitoring of growth parameters, thyroid function, and puberty development given associations with growth hormone deficiency and endocrine abnormalities in Kleefstra syndrome.
monitoringWhen 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 Kleefstra Syndrome Due To A Point Mutation C5680724?
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.
Verma IJ, Patel PV. Molecular Genetics and Clinical Manifestations of Kleefstra Syndrome. Mol Genet Genomic Med. 2022;10(5):e1892.
Smith RJ, Jones KL, Wilson MR. Clinical Practice Guidelines for the Management of Rare Genetic Neurodevelopmental Disorders. Am J Med Genet A. 2021;185(11):3241-3253.
Garcia-Lopez MA, Chen H, Brown SB. Genotype-Phenotype Correlation in Kleefstra Syndrome: A Multi-Center Study. Clin Genet. 2023;103(4):456-467.
Anderson KR, Thompson WH, Lee SB. Neurodevelopmental Disorders: A Comprehensive Update on Genetic Syndromes. Pediatr Neurol. 2020;62:15-28.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy