Overview
Mosaic genome-wide paternal uniparental disomy syndrome (also called mosaic paternal UPD or mosaic androgenetic/biparental mosaicism) is an extremely rare genetic condition in which some cells in the body have two copies of every chromosome from the father instead of one copy from each parent. This happens because of an error very early in embryonic development, leading to a mix (mosaic) of normal cells and cells with only paternal genetic material. Because certain genes are normally silenced depending on which parent they come from (a process called genomic imprinting), having two paternal copies disrupts the balance of gene activity throughout the body. This condition can affect many organ systems. Common features include overgrowth of the body or specific body parts (hemihyperplasia), an enlarged tongue (macroglossia), abdominal wall defects such as omphalocele, and an increased risk of developing certain childhood tumors, particularly Wilms tumor (a kidney cancer) and hepatoblastoma (a liver tumor). Children may also have developmental delays, intellectual disability, and distinctive facial features. The severity of symptoms varies widely depending on how many cells carry the abnormal genetic makeup and where those cells are located in the body. There is currently no cure for this condition. Treatment focuses on managing individual symptoms, monitoring for tumor development through regular screening, and providing developmental support. A team of specialists is typically needed to address the wide range of possible health issues. Early diagnosis and close surveillance are important for improving outcomes, especially regarding tumor risk.
Also known as:
Key symptoms:
Overgrowth of one side of the body (hemihyperplasia)Enlarged tongue (macroglossia)Large birth weight or body sizeAbdominal wall defects such as omphaloceleIncreased risk of childhood tumors like Wilms tumor or hepatoblastomaDevelopmental delaysIntellectual disabilityLow blood sugar in newborns (neonatal hypoglycemia)Abnormal skin pigmentation or patchy skin changesEnlarged organs such as liver or kidneysDistinctive facial featuresFeeding difficulties in infancyPlacental abnormalities (such as a large placenta)Skeletal abnormalities
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Mosaic genome-wide paternal uniparental disomy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Mosaic genome-wide paternal uniparental disomy syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Mosaic genome-wide paternal uniparental disomy syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How much of my child's body is affected by the mosaic paternal uniparental disomy, and what does that mean for their health?,What tumor surveillance schedule should we follow, and for how long?,What developmental milestones should we watch for, and when should we be concerned?,Are there specific signs of tumors or other complications I should watch for at home?,What therapies or early intervention services do you recommend for my child?,Is there a risk of this happening again in a future pregnancy?,Are there any clinical trials or research studies we should know about?
Common questions about Mosaic genome-wide paternal uniparental disomy syndrome
What is Mosaic genome-wide paternal uniparental disomy syndrome?
Mosaic genome-wide paternal uniparental disomy syndrome (also called mosaic paternal UPD or mosaic androgenetic/biparental mosaicism) is an extremely rare genetic condition in which some cells in the body have two copies of every chromosome from the father instead of one copy from each parent. This happens because of an error very early in embryonic development, leading to a mix (mosaic) of normal cells and cells with only paternal genetic material. Because certain genes are normally silenced depending on which parent they come from (a process called genomic imprinting), having two paternal co
How is Mosaic genome-wide paternal uniparental disomy syndrome inherited?
Mosaic genome-wide paternal uniparental disomy syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mosaic genome-wide paternal uniparental disomy syndrome typically begin?
Typical onset of Mosaic genome-wide paternal uniparental disomy syndrome is neonatal. Age of onset can vary across affected individuals.