Multiple Congenital Anomalies Due To 14q32 2 Paternally Expressed Gene Defect Cn372088
A rare genetic condition from abnormal expression of paternal genes on chromosome 14, affecting growth and development. Management focuses on treating specific present complications.
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
Paternal uniparental disomy 14-like growth restriction
(growth)Intellectual disability
(neurological)Joint contractures
(musculoskeletal)Ventricular septal defect
(cardiovascular)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
Corrective Surgery for Structural Defects
Surgical intervention tailored to the specific congenital anomalies present, addressing cardiac, skeletal, or other structural abnormalities identified through diagnostic evaluation.
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Comprehensive Long-Term Follow-up
Lifelong coordinated care involving multiple specialties to monitor disease progression, manage emerging complications, and optimize functional outcomes through regular assessments.
Additional treatment options
Targeted Medical Therapy
Pharmacological treatment addressing specific organ system involvement such as cardiovascular agents for cardiac defects or endocrine medications for hormonal abnormalities.
medicationDiagnostic Assessment Procedures
Systematic diagnostic workup including laboratory studies, imaging, and specialized testing to fully characterize all organ systems involved and guide treatment planning.
procedureAdaptive Support and Environmental Modifications
Implementation of adaptive equipment, environmental adaptations, and family support systems to maximize functional independence and quality of life.
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 Paternally Expressed Gene Defect Cn372088?
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 Paternally Expressed Gene Defect Cn372088. 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 20, 2026. · Read our editorial policy