Distal 17p13 1 Microdeletion Syndrome C4749349
A rare chromosomal disorder involving deletion of genetic material from chromosome 17, impacting development and health. Symptoms can include developmental delay, distinctive facial features, and neurological issues. Treatment focuses on managing specific symptoms with supportive care.
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.
Congenital heart defect
(cardiovascular)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Facial dysmorphism
(craniofacial)Seizures
(neurological)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
Antiepileptic drug therapy
Seizure management using antiepileptic medications tailored to seizure type and patient tolerability. Regular monitoring of efficacy and side effects is essential for optimal seizure control.
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Structured physical therapy program addressing motor delays, muscle tone abnormalities, and promoting age-appropriate gross motor development through targeted exercises and activities.
Additional treatment options
Neuropsychological evaluation and support
Comprehensive neuropsychological assessments to identify cognitive strengths and weaknesses, guiding educational placement and therapeutic interventions.
psychologicalRegular neurological monitoring
Periodic neurological examinations and diagnostic testing to monitor developmental progress, seizure activity, and identify emerging neurological concerns.
monitoringGenetic counseling services
Family genetic counseling to discuss inheritance patterns, recurrence risks, and available reproductive options for families affected by this chromosomal deletion.
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 Distal 17p13 1 Microdeletion Syndrome C4749349?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Distal 17p13 1 Microdeletion Syndrome C4749349. 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 25, 2026. · Read our editorial policy