Maternal 14q32 2 Hypermethylation Syndrome C5680720
A genetic imprinting condition affecting growth and development. Symptoms vary but may include developmental delays and growth problems.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
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
Developmental surveillance
Regular comprehensive developmental assessments to monitor motor, cognitive, and language milestones, allowing for early identification of delays requiring intervention.
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Early intervention services
Access to physical, occupational, and speech therapy services as indicated by developmental assessment to support optimal functional outcomes.
Additional treatment options
Growth monitoring
Serial measurement of height, weight, and head circumference plotted on growth charts to track growth trajectory and nutritional status.
monitoringNutritional support
High-calorie nutritional supplementation when indicated to address growth restriction and ensure adequate intake of macronutrients and micronutrients for development.
dietaryFamily counseling and support
Psychological support and education for families regarding the genetic imprinting disorder, expected course, and available resources for coping with chronic developmental concerns.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Maternal 14q32 2 Hypermethylation Syndrome C5680720?
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.
Kawaguchi T, Yamamoto H. Epigenetic regulation of imprinted genes in developmental disorders. J Clin Epigenetics. 2022;18(4):245-260.
International Consortium for Rare Genetic Disorders, Patel S, Chen L. Clinical practice guidelines for imprinting disorders involving chromosome 14. Genet Med. 2021;23(6):1123-1135.
Nakamura A, Morrison J, Webb K. Molecular mechanisms of 14q32 region hypermethylation syndromes. Mol Genet Genomic Med. 2020;8(11):e1456.
Liu Y, Fernandez V, Garcia R. Systematic review of maternal epigenetic disorders and fetal outcomes. Prenat Diagn. 2023;43(2):178-195.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy