Deletion 6q16 Q21 C2931774
A genetic condition from missing genetic material in a specific region of chromosome 6, leading to developmental delays and distinctive facial features. Treatment addresses individual 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.
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)Corpus callosum dysgenesis
(nervous)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 through appropriate antiepileptic medications selected based on seizure type and patient-specific factors. Regular monitoring of efficacy and side effects is essential.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early developmental physical therapy
Structured therapy program targeting motor development, muscle tone normalization, and functional movement patterns. Sessions typically involve gross motor skill exercises and positioning techniques.
Additional treatment options
Developmental and behavioral interventions
Comprehensive cognitive and behavioral support addressing learning disabilities, behavioral challenges, and social skill development through individualized therapy plans.
psychologicalMultidisciplinary surveillance program
Regular assessment by genetics, neurology, cardiology, and developmental specialists to monitor for associated conditions including cardiac anomalies and progressive neurological changes.
monitoringSeizure-resective surgery (if applicable)
Surgical intervention for medication-resistant seizures when a discrete epileptogenic focus can be identified through comprehensive pre-surgical evaluation.
surgicalWhen 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 6q16 Q21 C2931774?
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 6q16 Q21 C2931774. 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