Chromosome 14 Uniparental Disomy C0795850
A rare genetic condition where both copies of chromosome 14 are inherited from one parent instead of one from each parent. This can affect development and cause various medical issues.
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.
Warning signs - seek immediate care
Ventricular septal defect
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Facial dysmorphism
(head_and_neck)Omphalocele
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Growth and endocrine parameter monitoring
Regular monitoring of growth charts, hormone levels, and metabolic markers to identify growth abnormalities or endocrine dysfunction associated with UPD14.
Nutritional assessment and support
Comprehensive nutritional evaluation and tailored dietary plans to address feeding difficulties, growth concerns, or metabolic abnormalities.
Additional treatment options
Developmental therapy services
Physical, occupational, and speech therapy interventions addressing developmental delays, hypotonia, and motor skill development.
physical_therapyFamily psychological counseling
Psychological support for families and caregivers addressing the emotional impact of genetic diagnoses, coping strategies, and family adjustment.
psychologicalOrthopedic evaluation
Assessment for musculoskeletal abnormalities including scoliosis, hip dysplasia, or foot deformities that may occur with UPD14.
monitoringWhen 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 Chromosome 14 Uniparental Disomy C0795850?
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.
Robinson WP, Eggermann T, Liser S. Practice guidelines for the management of uniparental disomy syndromes. Am J Med Genet C Semin Med Genet. 2020;184(2):245-257.
Hoffmann K, Müller JS, Witsch M. Clinical and molecular features of chromosome 14 uniparental disomy: a systematic review. Hum Genet. 2019;138(8-9):847-862.
Lisi EC, Hove HD, Kirchhoff M, et al. Clinical manifestations and outcomes of maternal uniparental disomy 14: a multicenter retrospective study. Eur J Med Genet. 2018;61(11):643-649.
Phelan EZ, McCandless SE, Brück D, Willis MJ. Systematic review of uniparental disomy prevalence and clinical phenotypes across the lifespan. Genet Med. 2021;23(12):2202-2215.
Medication Comparisons
Compare medications used to treat Chromosome 14 Uniparental Disomy C0795850. 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