Multiple Congenital Anomalies Due To 14q32 2 Imprinting Defect Cn372087
A rare genetic condition caused by an imprinting defect on chromosome 14, leading to multiple congenital abnormalities and developmental challenges. Management involves addressing specific 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
Intrauterine growth retardation
(growth)Global developmental delay
(neurological)Skeletal abnormalities
(musculoskeletal)Hypothyroidism
(endocrine)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
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Growth Hormone Therapy
May be considered for patients with growth hormone deficiency associated with 14q32.2 imprinting defects to improve linear growth and metabolic parameters.
Endocrine and Metabolic Surveillance
Regular assessment of thyroid function, glucose metabolism, and puberty development given the endocrine manifestations associated with this imprinting defect.
Additional treatment options
Corrective Surgical Procedures
Surgical repair of structural anomalies such as skeletal abnormalities, cleft palate, or cardiac defects as clinically indicated.
surgicalNutritional Optimization
Balanced nutrition with attention to metabolic needs; may include dietary modifications if metabolic or glycemic issues are present.
dietaryDevelopmental and Educational Support
Early intervention services and educational accommodations to address learning differences and support optimal development.
psychologicalWhen 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 Imprinting Defect Cn372087?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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