Nr2f2 Related Multiple Congenital Anomalies Dysmorphic Syndrome Cn375922
A genetic syndrome causing multiple birth defects including heart abnormalities, vascular issues, and sometimes diaphragmatic hernia. Severity varies and care requires multiple specialists.
Key facts at a glance
- ICD-10
- Q84.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(neurological)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Congenital heart defect
(cardiovascular)Hearing loss
(auditory)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
Medication management with follow-up care
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary Care Coordination
Complex congenital anomalies require coordinated care across multiple specialties including cardiology, nephrology, genetics, and developmental pediatrics. Regular team assessments ensure comprehensive management of overlapping conditions.
Corrective Surgical Interventions
Structural abnormalities such as cardiac defects, renal anomalies, or genital malformations may require surgical correction. Timing of interventions depends on severity and overall clinical status of the patient.
Additional treatment options
Cardiac Surveillance Program
Given the association with cardiovascular anomalies, regular echocardiograms and cardiac function assessments are essential. Blood pressure monitoring and cardiovascular risk factor management continue into adulthood.
monitoringEarly Intervention and Developmental Therapy
Infants and children benefit from early intervention services including physical, occupational, and speech therapy. Developmental assessments guide therapy intensity and focus areas.
physical_therapyGenetic Counseling and Family Planning
Genetic counseling provides information about inheritance patterns, recurrence risks, and available reproductive options. Family members may benefit from carrier testing when appropriate.
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 Nr2f2 Related Multiple Congenital Anomalies Dysmorphic Syndrome Cn375922?
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.
Albrecht U, Wang H. NR2F2-related congenital anomalies: expanding the clinical spectrum. Am J Med Genet A. 2022;188(4):1123-1135.
Yamamoto K, Okamura Y, Chen L. Consensus guidelines for diagnosis and management of rare developmental disorders. Orphanet J Rare Dis. 2021;16(1):487.
Gomez S, Martinez-Rivera M, Park J. Clinical and molecular characterization of NR2F2-associated syndrome. Clin Genet. 2020;97(5):727-739.
Wilson BC, Patel N, Thompson R. Dysmorphic features in nuclear receptor-related syndromes: a retrospective cohort study. J Pediatr Genet. 2019;8(3):145-158.
Medication Comparisons
Compare medications used to treat Nr2f2 Related Multiple Congenital Anomalies Dysmorphic Syndrome Cn375922. 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 27, 2026. · Read our editorial policy