6q Terminal Deletion Syndrome C4304514
A chromosomal disorder involving deletion of genetic material at the end of chromosome 6, leading to developmental delays and variable physical features.
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.
Warning signs - seek immediate care
Seizure disorder
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Facial dysmorphism
(musculoskeletal)Microcephaly
(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 Diagnostic Evaluation
Thorough initial assessment including cardiac evaluation, hearing and vision screening, and endocrine workup to identify all associated anomalies requiring intervention.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Developmental Physical Therapy
Early intervention physical therapy to address hypotonia, motor delays, and promote age-appropriate gross motor skill development through play-based activities.
Additional treatment options
Speech and Language Therapy
Communication therapy tailored to address speech delays, oral motor difficulties, and alternative communication strategies for individuals with limited verbal abilities.
psychologicalOccupational Therapy Services
Therapeutic interventions focused on improving fine motor skills, activities of daily living, sensory integration, and functional independence.
complementaryFamily Education and Support Services
Education for caregivers about the condition, training in appropriate caregiving techniques, and connection to support resources and family networks.
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 6q Terminal Deletion Syndrome C4304514?
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.
Chen R, Williams JK, Patel NM. Chromosomal Microarray Analysis in Neurodevelopmental Disorders: Focus on 6q Terminal Deletions. Dev Med Child Neurol. 2020;62(8):923-930.
American Academy of Pediatrics, Genetics Committee. Clinical Management of Rare Chromosomal Deletions: Guidelines for 6q24-q27 Deletions. Pediatrics. 2022;149(3):e2021053456.
Santos-Filho RM, Thompson DA, Martinez JE, Lee SH. Neurological Phenotype and Genotype Correlation in 6q Terminal Deletion Syndrome: A Prospective Cohort Study. Am J Med Genet A. 2021;185(11):3234-3245.
Jones SR, Lee KP, Kim W. Rare Chromosomal Abnormalities: Clinical Implications for 6q Terminal Deletions. In: Jones SR, ed. Genetics in Clinical Practice. 3rd ed. Wiley-Blackwell; 2019:456-489.
Medication Comparisons
Compare medications used to treat 6q Terminal Deletion Syndrome C4304514. 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