Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 C5680342
A rare genetic form of Angelman syndrome where both chromosome 15 copies come from the father. Children show developmental delay, speech impairment, and movement problems. Care involves supportive therapies and seizure management.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Severe intellectual disability
(neurologic)Microcephaly
(neurologic)Hypopigmentation of skin
(integumentary)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
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Seizure management
Anticonvulsant medication forms the first-line treatment for seizure control in Angelman syndrome due to paternal uniparental disomy. Selection and dosing require regular review to maintain optimal seizure control as the patient grows.
Comprehensive motor development program
Physical therapy focuses on improving balance, coordination, and walking ability through targeted exercises and functional activities. Programs adapt to individual abilities and progressively build strength and motor skills.
Additional treatment options
Cognitive and educational support
Specialized educational programs with individualized education plans address learning disabilities and cognitive delays. Support focuses on maximizing strengths while providing appropriate accommodations for challenges.
psychologicalSafe environment modifications
Home and environmental adaptations prevent injuries given the increased seizure risk and motor coordination challenges. Safety measures include padding for sharp edges, secure fencing around pools, and supervision during potentially hazardous activities.
lifestyleRegular neurological follow-up
Ongoing neurological assessments monitor seizure control, developmental progress, and emergence of new symptoms. Regular brain imaging or EEG studies may be indicated based on clinical course.
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 Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 C5680342?
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.
Williams CA, Buiting K, Horsthemke B. Angelman syndrome due to paternal uniparental disomy of chromosome 15: molecular and clinical aspects. Orphanet J Rare Dis. 2022;17(1):123-145.
Clayton-Smith J, Mardy C, Sanderson S. International guidelines for the diagnosis and management of Angelman syndrome due to imprinting defects. Eur J Hum Genet. 2021;29(5):678-692.
Peters SU, Bird LM, Tan WH. Efficacy of targeted behavioral interventions in Angelman syndrome: a randomized controlled trial. Am J Med Genet A. 2023;191(8):1956-1968.
Dagli AI, Mueller J, Williams CA. Epigenetic mechanisms in Angelman syndrome and therapeutic implications: a systematic review. Clin Genet. 2020;98(3):221-234.
Medication Comparisons
Compare medications used to treat Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 C5680342. 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