Deletion 13q Syndrome Partial C2930904
A chromosomal disorder caused by deletion of part of chromosome 13, affecting growth, development, and organ systems. Care involves managing specific symptoms and providing developmental support.
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
Seizures
Developmental delay
(nervous)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Facial dysmorphism
(craniofacial)Thumb anomalies
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Surgical correction of congenital anomalies
Surgical intervention may be necessary to correct structural abnormalities associated with 13q deletion syndrome, including congenital heart defects, cleft palate, or other anatomical abnormalities.
Multidisciplinary developmental monitoring
Regular assessment by developmental pediatricians, neurologists, and other specialists helps track growth, developmental progress, and identify emerging needs for intervention services.
Additional treatment options
Physical and occupational therapy
Early and ongoing physical and occupational therapy helps address motor delays, muscle hypotonia, and improves functional abilities and independence in daily activities.
physical_therapyDevelopmental and educational support
Specialized educational programs and cognitive interventions help children with 13q deletion syndrome reach their developmental potential and manage learning difficulties.
psychologicalCancer surveillance
Patients with 13q deletion syndrome, particularly those with RB1 gene involvement, require regular screening for retinoblastoma and other associated malignancies.
monitoringWhen 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 Deletion 13q Syndrome Partial C2930904?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Deletion 13q Syndrome Partial C2930904. 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 25, 2026. · Read our editorial policy