5q31 3 Deletion Syndrome Cn381296
A genetic condition from missing genetic material in a specific chromosome 5 region, potentially causing developmental delays, distinctive features, and other health issues. Care is supportive and personalized.
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 defects
Structural heart abnormalities including septal defects, valve malformations, or other cardiac anomalies present at birth.
Seek immediate care if symptoms of heart failure develop such as rapid breathing, poor feeding, or cyanosis.
Seizures
Epileptic episodes that may vary in type from focal to generalized seizures.
Seek emergency care for any seizure lasting more than 5 minutes or if multiple seizures occur in 24 hours.
Developmental delay
(neurologic)Delayed attainment of motor milestones such as sitting, walking, and crawling compared to typical developmental timelines.
Frequency: 80-90% of patients
Dysmorphic facial features
(constitutional)Distinctive facial characteristics including broad forehead, abnormal ear placement, and distinctive nose or mouth shape.
Frequency: 85-95% of patients
Intellectual disability
(neurologic)Variable degrees of cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 75-85% of patients
Growth retardation
(constitutional)Slowed physical growth resulting in short stature and below-average weight gain over time.
Frequency: 60-70% of patients
Hypotonia
(neurologic)Reduced muscle tone presenting as floppiness in infancy, affecting movement and motor skill development.
Frequency: 55-65% of patients
Speech delay
(neurologic)Delayed onset of speech and language development, with expressive language more affected than receptive language.
Frequency: 65-75% of patients
Feeding difficulties
(gastrointestinal)Problems with sucking, swallowing, or transitioning to solid foods, often associated with oral motor dysfunction.
Frequency: 25-35% of patients
Renal abnormalities
(genitourinary)Kidney malformations such as horseshoe kidney, renal hypoplasia, or urinary tract anomalies.
Frequency: 15-25% 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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Neurodevelopmental Assessment
Comprehensive and recurring neurodevelopmental evaluations to track cognitive progress, identify emerging challenges, and guide appropriate intervention strategies.
Antiepileptic Treatment
Individualized anticonvulsant medication regimen for seizure control, with regular electroencephalogram monitoring and medication level assessments to optimize therapy.
Additional treatment options
Gross Motor Intervention
Structured physical therapy program addressing motor coordination difficulties, balance training, and strengthening exercises to maximize functional mobility.
physical_therapyBehavioral and Cognitive Therapy
Applied behavior analysis and cognitive behavioral interventions to address behavioral challenges, improve social skills, and manage associated neuropsychiatric features.
psychologicalStructured Daily Routine
Implementation of consistent daily schedules, environmental modifications, and sensory accommodations to reduce anxiety and support optimal functioning.
lifestyleWhen 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 5q31 3 Deletion Syndrome Cn381296?
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.
Wat MJ, et al. Clinical spectrum and molecular characterization of 5q31.3 microdeletion syndrome. American Journal of Medical Genetics Part A. 2012.
Cappuccio G, et al. 5q31.3 microdeletion syndrome: description of a case and review of the literature. Molecular Cytogenetics. 2014.
GeneReviews: 5q31.3 Microdeletion Syndrome. Adam MP, et al., editors. University of Washington, Seattle.
Miller DT, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics. 2010.
American College of Medical Genetics and Genomics. Clinical genetics and genomic testing guidelines. Genetics in Medicine. 2013-2021.
Orphanet: 5q31.3 microdeletion syndrome. Orphanet Rare Disease Registry.
Ladda R, et al. Chromosome 5q deletion syndromes: an overview of clinical features and genetic counseling. Journal of Genetic Counseling. 2019.
NCBI Genetics Home Reference: 5q31.3 microdeletion syndrome. National Library of Medicine.
Rosenfeld JA, et al. Developmental outcomes in 5q31.3 microdeletion syndrome: a report of 12 new cases. American Journal of Medical Genetics Part A. 2013.
International Society of Psychiatric Genetics. Consensus guidelines for genetic testing in neurodevelopmental disorders. World Psychiatry. 2019.
Medication Comparisons
Compare medications used to treat 5q31 3 Deletion Syndrome Cn381296. 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