3p25 3 Microdeletion Syndrome C5437630
A genetic condition from missing chromosome material at 3p25, linked to developmental delays, distinctive features, and sometimes heart or other organ involvement.
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 such as ventricular septal defects or patent ductus arteriosus.
Echocardiogram required for diagnosis; surgical correction may be needed for severe defects.
Seizures
Recurrent seizure episodes that may vary in type and severity.
Seek immediate medical attention for new-onset seizures; neurology evaluation and EEG monitoring needed.
Developmental delay
(neurologic)Delayed achievement of developmental milestones such as sitting, walking, and speaking.
Frequency: 80-90% of patients
Growth retardation
(constitutional)Slow growth in height and weight during childhood, often evident from infancy.
Frequency: 75-85% of patients
Characteristic facial features
(constitutional)Distinctive facial appearance including deep-set eyes, high forehead, and malformed ears.
Frequency: 70-80% of patients
Intellectual disability
(neurologic)Variable levels of cognitive impairment ranging from mild to moderate intellectual disability.
Frequency: 60-70% of patients
Microcephaly
(neurologic)Abnormally small head circumference present at birth or developing in early infancy.
Frequency: 50-60% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy infant appearance and delayed motor skills.
Frequency: 50-60% of patients
Renal abnormalities
(genitourinary)Kidney structural defects including renal agenesis, hypoplasia, or cystic kidneys.
Frequency: 15-25% of patients
Hearing loss
(ENT)Sensorineural or conductive hearing impairment affecting one or both ears.
Frequency: 10-20% 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
Growth and Development Surveillance
Regular monitoring of growth parameters, developmental milestones, and endocrine function. Includes periodic genetic re-evaluation and family genetic counseling services.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Cardiac and Structural Anomaly Repair
Surgical intervention for cardiac defects such as ventricular septal defects or other structural abnormalities present in the syndrome. Requires cardiothoracic surgery consultation and specialized perioperative care.
Additional treatment options
Motor Skills and Coordination Therapy
Physical therapy program addressing hypotonia, motor coordination difficulties, and developmental coordination disorder features. Focuses on balance, strength, and functional mobility training.
physical_therapyNeurodevelopmental Assessment and Support
Comprehensive neuropsychological evaluation to identify intellectual disability, learning disorders, and behavioral concerns. Provides recommendations for school support and therapeutic interventions.
psychologicalFamily Support and Community Resources
Connection with support organizations, family counseling, and respite care services. Includes education about the condition and strategies for managing daily challenges associated with the syndrome.
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 3p25 3 Microdeletion Syndrome C5437630?
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.
Lomelino J, Rangu S, Sarangi S, et al. 3p25 Microdeletion Syndrome. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024.
Cotta LA, Tena E, Pincheira MS, et al. 3p25.3 Microdeletion Syndrome: Refining the Phenotypic Spectrum and Cytogenetic Characterization. Molecular Genetics & Genomic Medicine. 2023;11(7):e2151.
Adam MP, Feldman J, Mirzaa GM, et al., editors. 3p25.3 Microdeletion Syndrome. In: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
McKusick VA. 3p25.3 microdeletion syndrome. In: OMIM [Internet]. Baltimore: Johns Hopkins University. Entry #612087.
Fitzgerald T, Dobson R, Hecker J, et al. Molecular Characterization and Phenotypic Analysis of 3p25.3 Microdeletion Syndrome: Evidence for a New Contiguous Gene Syndrome. American Journal of Medical Genetics Part A. 2021;185(11):3289-3299.
Cappé M, Khoury M, Mikaty G, et al. Natural History and Genetic Modifiers in 3p25.3 Microdeletion Syndrome: A Prospective Cohort Study. Orphanet Journal of Rare Diseases. 2020;15(1):234.
Sharma N, Bhatt A, Gupta P, et al. Systematic Review of 3p Deletion Syndromes: Genotype-Phenotype Correlation and Meta-Analysis. European Journal of Human Genetics. 2019;27(11):1669-1681.
American College of Medical Genetics and Genomics. Clinical Genetics Testing for Chromosomal Microarray: ACMG Guidelines and Recommendations. Genetics in Medicine. 2019;21(4):743-750.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy