14q24 1q24 3 Microdeletion Syndrome C4750911
A rare genetic deletion involving part of chromosome 14. It can affect development and lead to various medical issues. Management focuses on supportive care and addressing specific needs.
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
Seizures
Episodes of uncontrolled electrical activity in the brain that may cause convulsions, staring spells, or rhythmic movements.
Seek immediate emergency care for any seizure lasting more than 5 minutes or if it's the first seizure occurrence.
Congenital heart defects
Structural heart abnormalities present at birth, which may include septal defects or other cardiac malformations.
Echocardiogram evaluation is essential; urgent cardiology consultation needed if symptoms like rapid breathing, poor feeding, or cyanosis occur.
Developmental delay
(neurologic)Delays in reaching developmental milestones such as sitting, walking, and talking compared to typical children of the same age.
Frequency: 90-100% of patients
Intellectual disability
(constitutional)Learning difficulties and varying degrees of intellectual impairment affecting cognitive function and adaptive skills.
Frequency: 85-95% of patients
Growth retardation
(constitutional)Slowed growth in both height and weight, often noticeable in infancy and continuing through childhood.
Frequency: 60-70% of patients
Hypotonia
(neurologic)Reduced muscle tone causing floppiness in infancy, which may improve with therapy but can affect motor development.
Frequency: 50-65% of patients
Speech and language delay
(neurologic)Delayed onset of speech and difficulty with language development, ranging from mild to severe impairment.
Frequency: 70-85% of patients
Hearing loss
(sensory)Varying degrees of hearing impairment, which may be conductive or sensorineural in nature.
Frequency: 10-20% of patients
Facial dysmorphism
(facial)Distinctive facial features that may include prominent forehead, deep-set eyes, nasal abnormalities, or unusual ear shape.
Frequency: 50-70% 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
Comprehensive Rare Disease Management Program
Longitudinal care coordination among multiple specialties including genetics, neurology, cardiology, and developmental services with regular comprehensive evaluations.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Family Support and Genetic Counseling Services
Psychosocial support, recurrence risk counseling, and connection to support organizations for families affected by rare chromosomal deletions.
Additional treatment options
Cardiac Anomaly Corrective Procedures
Surgical intervention for congenital heart defects when structurally significant lesions are present, performed by pediatric cardiac surgeons.
surgicalNeurodevelopmental Therapy Program
Multimodal therapy addressing motor delays, feeding difficulties, and positioning needs through specialized pediatric physical and occupational therapy.
physical_therapyEpilepsy Control Management
Anti-epileptic drug therapy with regular neurological follow-up, EEG monitoring, and medication level assessments to achieve optimal seizure control.
medicationWhen 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 14q24 1q24 3 Microdeletion Syndrome C4750911?
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. Am J Hum Genet. 2010.
Lupski JR. Genomic disorders: structural features of the genome can lead to segmental aneuploidy and hereditary disease. Nat Rev Genet. 2009.
Stankiewicz P, Lupski JR. Structural variation in the human genome and its role in disease. Annu Rev Med. 2010.
Strachan T, Read AP. Human Molecular Genetics. 4th ed. New York: Garland Science; 2011.
Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010.
OMIM #614241: 14q24.1q24.3 Microdeletion Syndrome. Online Mendelian Inheritance in Man. Johns Hopkins University.
Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012.
ACOG Committee Opinion No. 581: The use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013.
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.
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