Distal 7q11 23 Microdeletion Syndrome C3150999
A rare chromosomal deletion involving part of chromosome 7. Can cause developmental delays, intellectual disability, and distinctive facial features. Treatment is supportive and individualized.
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
Supravalvular aortic stenosis
(cardiovascular)Developmental delay
(nervous_system)Hypercalcemia
(endocrine)Microcephaly
(nervous_system)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
Cardiovascular surveillance program
Regular cardiac monitoring including echocardiograms and blood pressure assessments to detect and manage supravalvular aortic stenosis and other vascular abnormalities.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Behavioral and emotional support
Psychological interventions addressing characteristic Williams syndrome personality traits including anxiety, attention deficits, and social sensitivities through behavioral therapy and counseling.
Additional treatment options
Motor development and coordination therapy
Physical therapy addressing motor delays, hypotonia, and coordination difficulties commonly seen in this condition to improve functional abilities.
physical_therapyStructured educational programming
Individualized education plans incorporating the characteristic learning profile, capitalizing on strengths in language and social abilities while supporting academic challenges.
lifestyleGenetic counseling services
Comprehensive genetic counseling for families including discussion of inheritance patterns, 7q11.23 region features, and family planning considerations.
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 7q11 23 Microdeletion Syndrome C3150999?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication 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 27, 2026. · Read our editorial policy