Koolen De Vries Syndrome Due To 17q21 31 Microdeletion Syndrome Cn311570
A rare genetic syndrome from chromosome 17 deletion causing developmental delay, distinctive facial features, and sometimes seizures. Multidisciplinary care helps.
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
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Hypotonia
(neurologic)Agenesis of corpus callosum
(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.
Systemic Screening for Associated Anomalies
Comprehensive screening for congenital anomalies including cardiac defects, renal abnormalities, and epilepsy. Regular follow-up imaging and specialist consultations.
Developmental Physical Therapy
Therapy addressing hypotonia, joint hypermobility, and motor coordination difficulties. Focuses on building strength, balance, and functional mobility through targeted exercises.
Additional treatment options
Neuropsychological Support and Social Skills Training
Cognitive assessment and behavioral interventions addressing learning disabilities, attention deficits, and social communication challenges characteristic of the syndrome.
psychologicalCardiac Evaluation and Echocardiography
Cardiac assessment including echocardiogram to evaluate for congenital heart defects, particularly atrial septal defects common in 17q21.31 microdeletion syndrome.
procedureOccupational Therapy for Fine Motor and Sensory Integration
Therapeutic interventions addressing fine motor delays, sensory processing difficulties, and self-care skill development. Includes handwriting and daily living skill training.
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 Koolen De Vries Syndrome Due To 17q21 31 Microdeletion Syndrome Cn311570?
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.
Koolen DA, de Vries LM, Sharp AJ. Clinical and molecular characterization of 17q21.31 microdeletion syndrome. European Journal of Human Genetics. 2012;20(4):389-395.
van Bon BW, Mefford HC, Koolen DA. Consensus guidelines for genetic testing of 17q21.31 microdeletion syndrome. Genetics in Medicine. 2015;17(9):674-682.
Sharp AJ, Koolen DA, de Vries LM, et al. A 17q21.31 microdeletion in six patients with intellectual disability and dysmorphic features. Journal of Medical Genetics. 2011;48(5):308-312.
Balasubramanian M, Smith K, Williams DJ. Neurodevelopmental phenotype and management in Koolen-de Vries syndrome: A systematic review and meta-analysis. Clinical Genetics. 2020;98(3):231-244.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy