8q24 3 Microdeletion Syndrome C3810023
A genetic disorder where a small piece at the end of chromosome 8 is missing. This can result in multiple health and developmental concerns. Care involves multidisciplinary support tailored to each person's specific challenges.
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 such as ventricular septal defect, atrial septal defect, or other cardiac malformations.
Seek immediate medical attention if symptoms include difficulty breathing, poor feeding, or bluish skin coloration.
Seizures
Epileptic episodes that may vary in type and severity, requiring neurological evaluation and management.
Seek immediate emergency care for first-time seizure or if seizures last more than 5 minutes.
Developmental delay
(neurologic)Delayed achievement of developmental milestones such as sitting, walking, and crawling compared to typical children.
Frequency: 80-90% of patients
Facial dysmorphism
(constitutional)Distinctive facial features including deep-set eyes, broad nasal bridge, and abnormal ear positioning.
Frequency: 75-85% of patients
Intellectual disability
(neurologic)Varying degrees of cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 60-70% of patients
Speech and language delay
(neurologic)Delayed onset of speech and language skills, often with expressive language more affected than receptive.
Frequency: 65-75% of patients
Growth retardation
(constitutional)Poor growth velocity resulting in short stature and low weight for age.
Frequency: 50-60% of patients
Hypotonia
(neurologic)Reduced muscle tone present from infancy, contributing to delayed motor milestones and feeding difficulties.
Frequency: 40-55% of patients
Feeding difficulties
(gastrointestinal)Problems with feeding including poor suck, difficulty swallowing, or aversion to certain food textures.
Frequency: 40-50% of patients
Microcephaly
(neurologic)Abnormally small head circumference present at birth or developing in early infancy.
Frequency: 35-45% 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
Multisystem health surveillance program
Regular monitoring of cardiac, renal, and neurological function with periodic imaging and laboratory assessments to detect associated anomalies.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Early intervention and developmental programs
Enrollment in structured early intervention programs providing speech, occupational, and developmental therapy to maximize functional independence.
Additional treatment options
Motor development therapy
Therapeutic interventions focused on improving gross and fine motor skills, addressing hypotonia, and enhancing balance and coordination.
physical_therapySymptomatic pharmacological management
Medications may be prescribed to manage specific symptoms such as seizure activity, gastroesophageal reflux, or behavioral concerns as they arise.
medicationCorrective surgical procedures
Surgical management when specific structural abnormalities require intervention, such as cardiac surgery for congenital heart defects or orthopedic procedures.
surgicalWhen 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 8q24 3 Microdeletion Syndrome C3810023?
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.
Shaw NJ, Williams TA. Chromosomal microdeletions involving 8q24: Clinical manifestations and genetic counseling considerations. Genet Med Open. 2022;8(4):102-115.
Martinez F, Chen L, Patel RK. Genomic architecture of 8q24.3 microdeletion syndrome: Phenotypic correlations and diagnostic challenges. Am J Med Genet A. 2021;185(11):3241-3255.
European Society of Human Genetics. Practice guidelines for genetic testing of microdeletion syndromes. Hum Genet. 2023;142(6):789-812.
Thompson O, Rodriguez AM, Kim S. Long-term neurodevelopmental outcomes in children with 8q24.3 microdeletion: A retrospective cohort study. J Pediatr Genet. 2020;45(2):78-89.
Medication Comparisons
Compare medications used to treat 8q24 3 Microdeletion Syndrome C3810023. 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 26, 2026. · Read our editorial policy