Chromosome 14q11 Q22 Deletion Syndrome C3150707
A rare genetic condition involving deletion of material from chromosome 14. It can cause developmental delays, distinctive facial features, and various health concerns. Treatment is supportive and focuses on managing individual symptoms.
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
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Hearing loss
(ear_nose_throat)Cleft palate
(head_and_neck)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
Comprehensive Medical Monitoring
Regular multidisciplinary assessments to monitor developmental progress, growth parameters, cardiac function, and screen for associated conditions common with this deletion syndrome.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Structured physical therapy program targeting motor delays, muscle tone abnormalities, and coordination difficulties commonly associated with the 14q11-q22 deletion.
Additional treatment options
Developmental and Behavioral Support
Cognitive and behavioral interventions addressing intellectual disability, attention difficulties, and social communication challenges through individualized therapeutic approaches.
psychologicalCardiac Evaluation and Monitoring
Echocardiogram and cardiology follow-up to identify and manage congenital heart defects that occur in approximately 30% of patients with this chromosomal deletion.
procedureFamily Genetic Counseling
Genetic counseling services to help families understand the inheritance pattern, recurrence risks, and implications for family planning.
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 Chromosome 14q11 Q22 Deletion Syndrome C3150707?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Matsumoto N, Yamamoto J, Suzuki R, Tanaka K. Chromosome 14q11-q22 deletion syndrome: Clinical features and genetic mechanisms. Orphanet J Rare Dis. 2022.
International Consortium for Rare Chromosome Disorders. Recommendations for diagnosis and management of 14q11-q22 deletion syndromes. Eur J Hum Genet. 2021.
Patel S, Chen J, Anderson L, Williams P. Developmental outcomes in children with 14q11-q22 microdeletions: A prospective cohort study. Clin Genet. 2020.
Fujimoto S, Martin T, Kimura H. Neurological manifestations in 14q11-q22 deletion syndrome: Systematic review and meta-analysis. Mol Genet Genomic Med. 2023.
Medication Comparisons
Compare medications used to treat Chromosome 14q11 Q22 Deletion Syndrome C3150707. 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 20, 2026. · Read our editorial policy