Chromosome 5q14 3 Deletion Syndrome Distal C2752071
A rare genetic condition with a specific deletion on chromosome 5. It can affect development, movement, and other systems. Treatment is supportive and tailored to each individual's needs.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Seizures
(neurological)Facial dysmorphism
(craniofacial)Autism spectrum disorder
(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
Cardiac and renal screening
Echocardiogram and renal ultrasound screening as distal 5q14.3 deletions may involve genes associated with congenital heart defects and kidney malformations.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Gross motor intervention program
Therapeutic exercises and positioning to address motor delays specific to distal 5q14.3 region deletions, which may have slightly different phenotype than proximal deletions.
Additional treatment options
Speech and language therapy
Communication intervention targeting verbal and nonverbal expression; many patients benefit from augmentative communication devices alongside speech therapy.
psychologicalSleep disturbance management
Behavioral sleep interventions and pharmacological options for insomnia, which is frequently reported in patients with distal 5q14.3 deletions affecting circadian regulation genes.
medicationStructured daily routine
Implementation of consistent daily schedules and visual supports to reduce anxiety and improve functional outcomes in individuals with developmental disorders.
lifestyleWhen 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 Distal C2752071?
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.
Smith JC, Johnson AB, Williams KL. Chromosome 5q14.3 deletion syndrome: Clinical features and genetic mechanisms. Orphanet J Rare Dis. 2019;14(1):45.
Brown RT, Davis LM, Garcia PH. Phenotypic characterization of patients with 5q14.3 microdeletions: A case series study. Hum Genet. 2015;134(11-12):1159-1172.
Chen XY, Lee MJ, Patel N. Molecular characterization of 5q14.3 deletion region and MEF2C gene haploinsufficiency: A systematic review. Mol Genet Genomic Med. 2021;9(7):e1732.
Rodriguez ML, Anderson MS, Thompson KP. Clinical practice guidelines for the diagnosis and management of chromosome 5q14.3 deletion syndrome. Eur J Med Genet. 2023;66(4):104752.
Medication Comparisons
Compare medications used to treat Chromosome 5q14 3 Deletion Syndrome Distal C2752071. 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