Overview
Partial deletion of chromosome 20 syndrome is a rare genetic condition in which a piece of chromosome 20 is missing. Chromosomes carry our genetic instructions, and when a portion is deleted, it can affect how the body grows and develops. The specific symptoms depend on which part of chromosome 20 is missing and how large the deletion is. Because chromosome 20 contains many important genes, a partial deletion can lead to a wide range of problems. Common features may include intellectual disability, developmental delays, growth problems, distinctive facial features, and sometimes birth defects affecting the heart, kidneys, or other organs. Some children may have difficulty with speech and language, behavioral challenges, or seizures. The severity varies greatly from person to person depending on the exact location and size of the missing segment. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting development. This may include early intervention programs, speech therapy, physical therapy, occupational therapy, and special education services. Regular monitoring by a team of specialists helps address medical issues as they arise. With appropriate support, many individuals can make meaningful developmental progress and improve their quality of life.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech and language developmentDelayed motor milestones like sitting and walkingGrowth delays or short statureUnusual facial featuresLow muscle toneSeizures or epilepsyHeart defects present at birthKidney or urinary tract abnormalitiesBehavioral difficultiesFeeding problems in infancyLearning difficultiesSmall head sizeVision or hearing problems
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Partial deletion of chromosome 20 syndrome.
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Specialists
View all specialists →No specialists are currently listed for Partial deletion of chromosome 20 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 Partial deletion of chromosome 20 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
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.What specific part of chromosome 20 is deleted, and what does that mean for my child's health?,Should we have our own chromosomes tested to see if this was inherited?,What specialists should we see, and how often?,What early intervention services do you recommend starting right away?,Are there specific medical complications we should watch for based on this deletion?,What is the expected developmental outlook for my child?,Are there any clinical studies or research programs we could participate in?
Common questions about Partial deletion of chromosome 20 syndrome
What is Partial deletion of chromosome 20 syndrome?
Partial deletion of chromosome 20 syndrome is a rare genetic condition in which a piece of chromosome 20 is missing. Chromosomes carry our genetic instructions, and when a portion is deleted, it can affect how the body grows and develops. The specific symptoms depend on which part of chromosome 20 is missing and how large the deletion is. Because chromosome 20 contains many important genes, a partial deletion can lead to a wide range of problems. Common features may include intellectual disability, developmental delays, growth problems, distinctive facial features, and sometimes birth defects
At what age does Partial deletion of chromosome 20 syndrome typically begin?
Typical onset of Partial deletion of chromosome 20 syndrome is neonatal. Age of onset can vary across affected individuals.