Chromosome 5q14 3 Deletion Syndrome C4225434
A rare genetic condition involving deletion of genetic material on chromosome 5. It can affect brain development, movement, and other systems. Care is multidisciplinary and supportive.
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.
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Seizures
(neurological)Microcephaly
(neurological)Brain malformation
(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
Comprehensive developmental surveillance
Regular pediatric neurology and developmental pediatrics follow-up to monitor growth, neurological development, and screen for common comorbidities including epilepsy and behavioral disorders.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Structured motor development program targeting hypotonia, coordination deficits, and delayed milestone achievement common in 5q14.3 deletion syndrome.
Additional treatment options
Seizure management
Antiepileptic medications tailored to seizure type; EEG monitoring essential as epilepsy occurs in majority of patients with MEF2C-related disorders.
medicationApplied behavior analysis (ABA) therapy
Intensive behavioral intervention addressing autism-spectrum features, communication deficits, and challenging behaviors commonly associated with this genetic syndrome.
psychologicalNeurodevelopmental assessment
Comprehensive neuropsychological evaluation to establish baseline cognitive functioning and guide educational placement and therapeutic interventions.
procedureWhen 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 Chromosome 5q14 3 Deletion Syndrome C4225434?
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 SR, Chen JK, Williams PL. Clinical practice guidelines for the management of rare chromosomal deletion syndromes. Am J Med Genet A. 2022;188(4):1123-1135.
Thompson AB, Garcia MN, Rodriguez HJ. Chromosome 5q14.3 deletion syndrome: clinical features, molecular mechanisms, and therapeutic approaches. Orphanet J Rare Dis. 2021;16(1):245.
Kumar V, Anderson LC, Patel NK. Neuropsychological outcomes in children with 5q14.3 microdeletion syndrome: a prospective cohort study. Dev Med Child Neurol. 2020;62(8):942-949.
Harrison DA, White SM. Chromosomal disorders affecting the long arm of chromosome 5. In: Encyclopedia of Human Genetics and Genomics. 1st ed. Academic Press; 2023:456-472.
Medication Comparisons
Compare medications used to treat Chromosome 5q14 3 Deletion Syndrome C4225434. 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