Multiple Congenital Anomalies Due To 14q32 2 Maternally Expressed Gene Defect C5779872
A rare genetic disorder from abnormal expression of maternal genes on chromosome 14, causing multiple physical anomalies and developmental delays. Care is supportive and tailored to 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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe pre- and post-natal growth retardation
(growth)Characteristic facial dysmorphism
(craniofacial)Structural brain abnormalities
(neurological)Feeding difficulties in infancy
(gastrointestinal)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.
Surgical Correction of Congenital Anomalies
Multidisciplinary surgical team performs corrective procedures for specific structural defects identified through imaging and examination. Timing of surgery depends on the severity and type of anomaly, with some conditions requiring immediate intervention while others are staged.
Multidisciplinary Surveillance Program
Regular monitoring by genetics, cardiology, nephrology, and other specialists as indicated by organ involvement. Includes periodic imaging and laboratory assessment to track anomaly progression and detect new manifestations.
Additional treatment options
Symptom-Directed Pharmacological Management
Medications prescribed to manage specific symptoms associated with organ involvement such as cardiac medications for structural heart defects or endocrine therapies for hormone imbalances.
medicationAdvanced Diagnostic Imaging
Comprehensive imaging studies including MRI, CT, and echocardiography to fully characterize the extent and nature of congenital anomalies for surgical planning and disease monitoring.
procedureFamily Education and Supportive Care
Comprehensive family education on disease manifestations, warning signs requiring urgent care, and developmental support resources. May include home modification recommendations based on specific anomalies.
lifestyleWhen 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 Multiple Congenital Anomalies Due To 14q32 2 Maternally Expressed Gene Defect C5779872?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Multiple Congenital Anomalies Due To 14q32 2 Maternally Expressed Gene Defect C5779872. 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