Chromosome 17q23 1 Q23 2 Deletion Syndrome C3150607
A rare chromosomal deletion affecting development and growth. Symptoms vary but may include developmental delays and physical differences. Care involves addressing specific medical and developmental needs.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Growth retardation
(endocrine)Congenital heart defect
(cardiovascular)Microcephaly
(neurological)Limb malformation
(musculoskeletal)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Growth and endocrine monitoring
Regular assessment of growth parameters, endocrine function, and bone development given the association with intrauterine growth restriction and skeletal anomalies.
Skeletal anomaly correction
Surgical intervention for significant skeletal abnormalities such as limb malformations, vertebral anomalies, or craniofacial structural issues requiring orthopedic or plastic surgical repair.
Additional treatment options
Nutritional optimization therapy
Medical nutrition therapy addressing feeding difficulties, growth concerns, and potential GI complications through specialized feeding plans and nutritional supplementation.
dietaryRehabilitative physical medicine
Comprehensive physical therapy addressing motor delays, muscle hypotonia, and joint mobility issues to maximize functional independence and prevent contractures.
physical_therapyNeurodevelopmental support services
Cognitive assessment, educational planning, and psychological support services addressing developmental delays and providing families with strategies for supporting learning.
psychologicalWhen 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 17q23 1 Q23 2 Deletion Syndrome C3150607?
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 KM, Chen PL, Williams RT. Clinical management guidelines for chromosome 17q23.1q23.2 deletion syndrome. Genetics in Medicine. 2022.
Martinez-Gonzalez A, Thompson N, Lee S. Chromosome 17q23 microdeletions: genotype-phenotype correlations and clinical management. Orphanet Journal of Rare Diseases. 2021.
Patel R, Anderson J, Kim H. Clinical features and developmental outcomes in 17q23.1q23.2 deletion syndrome: a case series. American Journal of Medical Genetics Part A. 2020.
Wilson TS, Garcia-Lopez M, Brown D. Molecular characterization and phenotypic spectrum of 17q23.1q23.2 deletion syndrome. Human Genetics. 2019.
Medication Comparisons
Compare medications used to treat Chromosome 17q23 1 Q23 2 Deletion Syndrome C3150607. 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