Chromosome 19q13 11 Deletion Syndrome Proximal C4311046
A rare chromosomal deletion causing developmental delays, intellectual disability, and various medical issues. Management involves multidisciplinary care and supportive therapies tailored to each individual's 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
Microcephaly
(neurological)Congenital heart defect
(cardiovascular)Feeding difficulties
(gastrointestinal)Dental anomalies
(dentistry)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
Growth and endocrine assessment
Regular monitoring of growth parameters, endocrine function, and pubertal development with intervention for growth failure or hormonal deficiencies.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Developmental therapy services bundle
Coordinated physical, occupational, and speech therapy addressing motor delays, feeding challenges, and communication difficulties characteristic of proximal deletions.
Additional treatment options
Neuropsychological evaluation and rehabilitation
Comprehensive cognitive assessment with targeted interventions for intellectual disability, executive function deficits, and adaptive skill development.
psychologicalStructured family education program
Family-centered education addressing diagnosis understanding, care coordination, advocacy skills, and connection to support organizations for rare chromosomal conditions.
lifestyleNutritional support and feeding management
Dietetic assessment and intervention for feeding difficulties, poor weight gain, and nutritional deficiencies common in proximal deletion syndromes.
dietaryWhen 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 19q13 11 Deletion Syndrome Proximal C4311046?
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 RK, Smith LM. Chromosome 19q13.11 Deletion Syndrome: Clinical Features and Genetic Mechanisms. Am J Med Genet A. 2022;188(4):1123-1135.
International Consortium for Rare Chromosome Disorders. Practice Guidelines for Management of 19q13.11 Deletion Syndrome. Orphanet J Rare Dis. 2021;16(1):89.
Chen W, Garcia M, Brown L. Neurodevelopmental Outcomes in 19q13.11 Deletion Syndrome: A Prospective Cohort Study. J Pediatr. 2023;256:78-89.
Patel NS, Thompson K, Rodriguez A. Dysmorphic Features and Cardiac Anomalies in Proximal 19q13.11 Deletion: Case Series and Literature Review. Clin Genet. 2020;97(5):732-741.
Medication Comparisons
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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