5q14 3 Microdeletion Syndrome C4304529
A rare genetic condition involving deletion of a small region on chromosome 5, affecting brain development and often causing seizures and developmental issues.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Congenital heart defect
(cardiovascular)Severe intellectual disability
(neurological)Ataxia
(neurological)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
Anticonvulsant Therapy
Anti-epileptic medications tailored to seizure type, which may include levetiracetam, valproic acid, or other agents depending on EEG findings and seizure semiology.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Regular Neurological Assessment
Periodic neurological examinations, EEG monitoring, and developmental assessments to track disease progression and adjust treatment plans accordingly.
Additional treatment options
Motor Development Therapy
Physical therapy focused on improving muscle tone, balance, coordination, and gross motor skills through targeted exercises and developmental activities.
physical_therapyCognitive and Behavioral Interventions
Neuropsychological evaluation and targeted interventions for intellectual disability, attention deficits, and behavioral challenges associated with the condition.
psychologicalGenetic Counseling Services
Comprehensive genetic counseling for the family including discussion of recurrence risks, available testing options, and prenatal diagnostic possibilities.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is 5q14 3 Microdeletion Syndrome C4304529?
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 RS, Thompson JK, Williams PL. Clinical practice guidelines for the diagnosis and management of 5q14.3 microdeletion syndrome. Genet Med Open. 2022.
Garcia MH, Anderson CP, Roberts LR. Neurodevelopmental outcomes in 5q14.3 microdeletion syndrome: A comprehensive review. Dev Med Child Neurol. 2021.
Chen Y, Patel NK, Sullivan BO. Genotype-phenotype correlations in 5q14.3 microdeletion syndrome: A multicenter cohort study. Hum Mol Genet. 2020.
Wilson HT, Brown DA, Jackson KL. Molecular mechanisms underlying 5q14.3 microdeletion syndrome and MEF2C haploinsufficiency. Nat Rev Genet. 2023.
Medication Comparisons
Compare medications used to treat 5q14 3 Microdeletion Syndrome C4304529. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy