Distal 17p13 3 Microdeletion Syndrome C4707092
A genetic disorder resulting from deletion of chromosome 17 material, affecting growth and development. Features often include developmental delay, intellectual disability, and characteristic facial features. Management involves a team approach to address diverse health 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
Global developmental delay
(nervous_system)Facial dysmorphism
(musculoskeletal)Seizures
(nervous_system)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
Individualized antiepileptic treatment
Customized antiepileptic medication regimen based on specific seizure manifestations, electroencephalogram findings, and individual patient response patterns.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Neuroimaging surveillance
Regular brain MRI examinations to assess structural brain abnormalities including lissencephaly progression and monitor for associated complications.
Additional treatment options
Intensive motor rehabilitation program
Comprehensive physical and occupational therapy focusing on motor skill development, postural control, and functional mobility adapted to individual capabilities.
physical_therapyGastrostomy tube placement assessment
Evaluation for feeding difficulties and consideration of gastrostomy tube placement when oral intake is insufficient for nutritional needs.
procedureFamily-centered support services
Psychological support and respite services for caregivers addressing the emotional and practical challenges of caring for individuals with severe developmental disabilities.
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 Distal 17p13 3 Microdeletion Syndrome C4707092?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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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 25, 2026. · Read our editorial policy