3q26q28 Deletion Syndrome C6010434
A genetic condition involving deletion of part of chromosome 3q26q28, typically causing developmental delays, growth issues, and multiple congenital differences.
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 problems, or other cardiac malformations.
Seek immediate medical attention if symptoms of heart failure develop such as rapid breathing, poor feeding, or bluish skin.
Seizure disorders
Epileptic seizures that may vary in type and severity.
Seek emergency care for any new-onset seizure or if seizures increase in frequency or severity.
Global developmental delay
(neurologic)Significant delays in reaching developmental milestones including motor, language, and cognitive skills.
Frequency: 90-100% of patients
Distinctive facial features
(constitutional)Characteristic facial appearance including broad forehead, deep-set eyes, prominent nose, and abnormal ear shape.
Frequency: 85-95% of patients
Microcephaly
(neurologic)Abnormally small head circumference due to reduced brain development.
Frequency: 60-70% of patients
Hand and finger abnormalities
(musculoskeletal)Structural hand anomalies including polydactyly, syndactyly, or abnormal finger positioning.
Frequency: 55-65% of patients
Kidney and urinary tract abnormalities
(genitourinary)Structural kidney problems including renal agenesis, hydronephrosis, or abnormal kidney formation.
Frequency: 40-50% of patients
Growth retardation
(constitutional)Slowed prenatal and postnatal growth leading to short stature.
Frequency: 60-70% of patients
Hearing loss
(ent)Conductive or sensorineural hearing impairment affecting one or both ears.
Frequency: 15-25% of patients
Speech and language delay
(neurologic)Delayed speech development and difficulties with expressive and receptive language.
Frequency: 80-90% 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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Regular growth and endocrine monitoring
Periodic assessment of growth patterns, puberty development, and endocrine function to identify and address growth hormone deficiencies or other hormonal concerns.
Musculoskeletal intervention program
Targeted physical therapy addressing skeletal abnormalities, joint mobility, and muscular tone abnormalities common in deletion syndromes.
Additional treatment options
Cognitive and behavioral support
Psychological services addressing learning difficulties, social skills deficits, and behavioral challenges through evidence-based interventions.
psychologicalMultidisciplinary care coordination
Care coordination services to integrate services across multiple specialists, schools, and support systems.
complementaryCorrective surgical interventions as indicated
Surgical evaluation and intervention for structural anomalies such as cleft palate, skeletal abnormalities, or urogenital issues when present.
surgicalWhen 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 3q26q28 Deletion Syndrome C6010434?
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.
McKusick VA. Online Mendelian Inheritance in Man (OMIM). 3q26q28 Deletion Syndrome. Entry #6010434. Johns Hopkins University.
Ting JC, Chen Y, Cherry AM. Chromosomal Microarray Analysis for Developmental Disabilities. Current Genetic Medicine Reports.
Miller DT, Adam MP, Aradhya S, et al. Consensus Recommendation for Chromosomal Microarray for Genetic Evaluation of Patients with Developmental Disabilities and Congenital Anomalies. Genetics in Medicine.
International Society of Psychiatric Genetics. Genetic Testing Guidelines. World Psychiatry.
American College of Medical Genetics and Genomics. Clinical Exome and Genome Sequencing for Rare Disease. Genetics in Medicine.
National Library of Medicine. MedlinePlus Genetics. Chromosomal Conditions. Bethesda, MD.
Wang L, Zhang W, Li Y. Clinical Utility of Chromosomal Microarray Analysis in Neurodevelopmental Disorders. JAMA Network Open.
Sahoo T, Cheung SW, Ward P, et al. Pathogenic Overview of Copy Number Variations. American Journal of Medical Genetics Part A.
Medication Comparisons
Compare medications used to treat 3q26q28 Deletion Syndrome C6010434. 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