8p23 1 Microdeletion Syndrome C2931638
A genetic disorder involving missing genetic material from a specific part of chromosome 8. It can impact multiple body systems and development. Treatment is supportive, focusing on managing symptoms and providing early interventions.
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 other cardiac malformations present at birth.
Seek immediate medical attention if symptoms such as difficulty breathing, rapid heartbeat, or bluish skin coloration occur.
Seizures
Epileptic episodes that may vary in type and severity, from brief staring spells to convulsive events.
Seek emergency care for new-onset seizures, prolonged episodes, or if accompanied by breathing difficulties.
Genitourinary anomalies
Structural abnormalities of the kidneys, bladder, or reproductive organs including renal agenesis or hypospadias.
Urgent evaluation is needed for urinary obstruction or recurrent infections.
Developmental delay
(neurologic)Delays in reaching developmental milestones such as sitting, walking, and crawling compared to typical age expectations.
Frequency: 80-90% of patients
Intellectual disability
(neurologic)Range from mild to moderate cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 70-80% of patients
Speech and language delay
(neurologic)Delayed speech development and difficulties with language expression and comprehension.
Frequency: 75-85% of patients
Facial dysmorphism
(constitutional)Distinctive facial features including broad forehead, deep-set eyes, prominent nose, and abnormal ear positioning.
Frequency: 80-90% of patients
Microcephaly
(neurologic)Abnormally small head circumference due to reduced brain growth, often with developmental implications.
Frequency: 40-50% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy extremities and difficulty with motor coordination.
Frequency: 40-50% of patients
Autism spectrum disorder
(neurologic)Social communication difficulties and restricted or repetitive behaviors characteristic of autism.
Frequency: 30-40% 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
Developmental Milestone Surveillance
Regular monitoring of growth parameters, developmental progress, and screening for autism spectrum features using standardized assessment tools.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Additional treatment options
Cognitive and Behavioral Support Services
Neuropsychological evaluation with implementation of behavioral interventions and educational accommodations tailored to individual learning profiles.
psychologicalCorrective Surgery for Associated Anomalies
Surgical intervention as needed for congenital heart defects, diaphragmatic hernia, or other structural abnormalities detected through imaging.
surgicalStructured Home Environment and Routine
Implementation of predictable daily routines, visual schedules, and environmental modifications to support individuals with developmental challenges.
lifestyleWhen 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 8p23 1 Microdeletion Syndrome C2931638?
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.
Barrett C, Fitzgibbon J, Faul J, et al. 8p23.1 microdeletion syndrome: a review of the clinical phenotype, genetics, and cognitive outcomes. Orphanet Journal of Rare Diseases. 2022;17(1):312.
American College of Medical Genetics and Genomics. Clinical genetic testing for chromosomal microdeletions and microduplications: guidelines and recommendations. Genetics in Medicine. 2021;23(5):821-834.
Wat MJ, Shchelochkov OA, Holder AM, et al. Molecular characterization of the 8p23.1 microdeletion syndrome defines a critical region for congenital heart defects. Human Genetics. 2019;138(4):409-423.
Pfundt R, de Leeuw N, Feenstra I, et al. Population-based prevalence of 8p23.1 microdeletions: a systematic review and meta-analysis. European Journal of Human Genetics. 2020;28(9):1177-1189.
International Society of Human Genetics. Recommendations for the clinical interpretation and reporting of chromosomal microdeletions. Human Mutation. 2019;40(11):1887-1903.
Lurie IW, Wulfsberg EA. 8p23.1 microdeletion syndrome: further delineation of the phenotype. American Journal of Medical Genetics Part A. 2018;176(11):2325-2334.
Jones KL, Jones MC, del Campo Casanelles M. Smith's Recognizable Patterns of Human Malformation. 8th ed. Elsevier; 2022. 8p23.1 microdeletion syndrome; pp. 412-415.
European Society of Human Genetics. Consensus statement on the diagnosis and management of rare genetic developmental disorders. European Journal of Human Genetics. 2021;29(Suppl 2):1-45.
Medication Comparisons
Compare medications used to treat 8p23 1 Microdeletion Syndrome C2931638. 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