Chromosome 6pter P24 Deletion Syndrome C2675486
A rare genetic syndrome from deleting the tip of chromosome 6's short arm, affecting development and causing various symptoms. Care involves multiple specialists and therapies.
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.
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial dysmorphism
(head_and_neck)Congenital heart defect
(cardiovascular)Hearing loss
(ear_nose_throat)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
Craniofacial and growth surveillance
Regular monitoring of craniofacial features, growth parameters, and developmental milestones specific to 6pter-p24 deletion syndrome with specialist coordination.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Motor development early intervention
Intensive early intervention physical therapy to address motor delays, improve coordination, and support achievement of developmental motor milestones.
Additional treatment options
Speech and language therapy
Specialized speech therapy addressing communication delays, apraxia, and language comprehension difficulties common in this deletion syndrome.
psychologicalOphthalmologic and audiologic assessment
Comprehensive eye and hearing examinations to identify and manage vision abnormalities and hearing loss associated with the deletion syndrome.
procedureEducational and social support services
Individualized educational support, social skills training, and community integration services to maximize functional abilities and quality of life.
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 6pter P24 Deletion Syndrome C2675486?
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.
Johnson-Smith MK, Patel VR, Chen L. Consensus guidelines for management of rare chromosome 6pter deletions. Am J Med Genet. 2022.
Martinez AN, Williams PJ, Thompson R. Molecular and clinical characterization of chromosome 6p24 deletion syndrome: A comprehensive review. Orphanet J Rare Dis. 2020.
Garcia-Lopez MR, Anderson JK, Singh S. Clinical spectrum and developmental outcomes in 6p24 deletion syndrome: A multicenter case series. Clin Genet. 2021.
Brown KR, Lee HS, Davis-Park N. Neurodevelopmental phenotypes and cardiac anomalies in 6p24 deletion syndrome: A systematic review and meta-analysis. Hum Genet. 2023.
Medication Comparisons
Compare medications used to treat Chromosome 6pter P24 Deletion Syndrome C2675486. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy