Autosomal Uniparental Disomy C6012235
A genetic condition where both copies of a chromosome come from the same parent instead of one from each parent. This can affect growth and development depending on which chromosome is involved. Management depends on the specific chromosome affected and resulting symptoms.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- other
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Failure to thrive
(constitutional)Generalized symptoms
(other)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Muscle hypotonia
(musculoskeletal)Intrauterine growth restriction
(constitutional)Metabolic abnormality
(constitutional)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
Comprehensive genetic and clinical monitoring
Regular surveillance for associated conditions common in UPD syndromes such as imprinting disorders, growth abnormalities, and malignancy risk. Includes periodic genetic testing and developmental assessments.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Musculoskeletal intervention program
Targeted physical therapy to address hypotonia, joint laxity, or motor delays commonly associated with certain UPD presentations. Focuses on strength building and coordination exercises.
Additional treatment options
Corrective surgical interventions
Surgical repair for structural abnormalities that may occur with specific UPD chromosomes, such as cardiac defects, cleft palate, or urogenital anomalies.
surgicalDevelopmental and family psychological support
Counseling and support services addressing learning disabilities, behavioral concerns, and family adjustment to managing a rare genetic condition.
psychologicalAdaptive lifestyle modifications
Environmental and daily activity adaptations tailored to individual manifestations, including assistive devices, educational accommodations, and activity modifications.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
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Medication Comparisons
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy