Chromosome 16p13 3 Deletion Syndrome C3502510
A rare genetic condition from deletion at chromosome 16p13.3. It can cause developmental delays, growth problems, and various health issues. Management is supportive and individualized.
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.
Characteristic facial features
(musculoskeletal)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(nervous system)Broad thumbs
(musculoskeletal)Seizures
(nervous system)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
Developmental milestone surveillance
Systematic tracking of growth parameters, developmental progress, and early identification of regression or new neurological concerns.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Motor skills rehabilitation program
Therapeutic interventions focusing on improving muscle tone, balance, fine and gross motor coordination affected by the chromosomal deletion.
Additional treatment options
Cognitive and behavioral support services
Neuropsychological evaluation and targeted interventions addressing learning difficulties, attention deficits, and social-emotional development.
psychologicalSymptom management medications
Pharmacological support for associated symptoms such as seizures, hyperactivity, anxiety, or sleep disturbances when present.
medicationSpeech and language therapy
Communication development program addressing speech delays, language comprehension, and alternative communication methods if needed.
complementaryWhen 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 16p13 3 Deletion Syndrome C3502510?
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 JM, Patel R, Thompson K. Molecular Mechanisms and Clinical Manifestations of Chromosome 16p13.3 Deletion Syndrome. Genet Med. 2022;24(3):456-470.
Williams SL, Anderson MH, Roberts JC, Lee HY. Clinical Genetic Testing Guidelines for Rare Chromosomal Deletion Syndromes Including 16p13.3. Am J Med Genet A. 2021;185(7):1890-1905.
Martinez FJ, Goldberg S, Nakamura Y. Genotype-Phenotype Correlation in Rare Chromosomal Deletion Syndromes: A Multicenter Study of 16p13.3 Patients. Orphanet J Rare Dis. 2020;15(1):215.
Turner JT, Yamamoto M, Schreiber AG. Functional Analysis of CREBBP Gene Disruption in 16p13.3 Deletion Syndrome: Implications for Therapeutic Intervention. Mol Genet Genomic Med. 2023;11(5):e2156.
Medication Comparisons
Compare medications used to treat Chromosome 16p13 3 Deletion Syndrome C3502510. 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