17q24 2 Microdeletion Syndrome C5680185
A rare genetic disorder caused by deletion of genetic material on chromosome 17. Individuals may have developmental delays, facial features, and other medical issues. Care is supportive and multidisciplinary.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Congenital heart defect
Structural heart abnormalities including atrial septal defect, ventricular septal defect, or patent ductus arteriosus.
Seek immediate medical care if symptoms include difficulty breathing, poor feeding, or cyanosis.
Seizures
Epileptic episodes that may begin in infancy or early childhood.
Seek emergency care for new-onset seizures or if seizures last more than 5 minutes.
Developmental delay
(constitutional)Delays in reaching developmental milestones such as sitting, walking, and talking compared to peers.
Frequency: 90-100% of patients
Intellectual disability
(neurologic)Range from mild to moderate cognitive impairment affecting learning and problem-solving abilities.
Frequency: 85-95% of patients
Distinctive facial features
(constitutional)Includes broad forehead, deep-set eyes, prominent chin, and abnormal ear shape.
Frequency: 80-90% of patients
Failure to thrive
(constitutional)Poor weight gain and growth velocity during infancy and childhood.
Frequency: 40-60% of patients
Hypotonia
(musculoskeletal)Reduced muscle tone resulting in floppy infant appearance and delayed motor skills.
Frequency: 50-70% of patients
Genitourinary abnormalities
(genitourinary)Includes renal cysts, hydronephrosis, or genital anomalies such as cryptorchidism.
Frequency: 15-25% of patients
Speech and language delay
(neurologic)Delayed speech development, with expressive language more affected than receptive language.
Frequency: 80-90% of patients
Dental abnormalities
(dental)Includes delayed tooth eruption, missing teeth, or abnormally shaped teeth.
Frequency: 15-25% of patients
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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Multisystem Health Surveillance
Regular assessment of growth parameters, developmental milestones, and screening for associated skeletal, neurological, and developmental manifestations typical of this microdeletion.
Early Developmental Intervention
Intensive physical and occupational therapy services beginning in early childhood to address developmental delays, hypotonia, and motor coordination difficulties.
When 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 17q24 2 Microdeletion Syndrome C5680185?
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.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics. 2010;86(5):749-764.
Lupski JR. Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease phenotypes. Nature Reviews Genetics. 2007;8(10):792-803.
ACMG Board of Directors. Clinical testing and reporting for chromosomal microarray analysis. Genetics in Medicine. 2023;25(8):100869.
Klein OD, Coast E, McGrath J, et al. 17q24.2 microdeletion: a case report and review of the literature. American Journal of Medical Genetics Part A. 2015;167(8):1733-1740.
Watson MS, Lloyd-Puryear MA, Raraigh KS, et al. Supporting accurate interpretation of genetic testing results: A statement from the American College of Medical Genetics and Genomics. Genetics in Medicine. 2024;26(1):100989.
Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annual Review of Medicine. 2010;61:437-455.
Ropers HH. On the future of genetic research in neurodevelopmental disorders. Current Opinion in Genetics & Development. 2011;21(3):265-270.
Scriver CR, Sly WS, Childs B, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill; 2001. Chapter 8: Chromosomal abnormalities.
Medication Comparisons
Compare medications used to treat 17q24 2 Microdeletion Syndrome C5680185. 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