Overview
Partial deletion of chromosome 19 syndrome is a rare genetic condition in which a piece of chromosome 19 is missing. Chromosomes carry our genetic instructions, and when a portion is deleted, it can affect how the body grows and develops. Because chromosome 19 contains many important genes, the specific symptoms depend on which part of the chromosome is missing and how large the deletion is. People with this condition may experience developmental delays, intellectual disability, distinctive facial features, growth problems, and sometimes birth defects affecting the heart or other organs. Some individuals have mild symptoms while others are more significantly affected. The condition is usually identified in infancy or early childhood when developmental milestones are not met on time. There is currently no cure for partial deletion of chromosome 19 syndrome. Treatment focuses on managing individual symptoms and supporting development. This may include early intervention programs, speech therapy, physical therapy, occupational therapy, and specialized educational support. Regular follow-up with multiple specialists is often needed to monitor growth, development, and any organ-specific complications. With appropriate support, many individuals can make meaningful developmental progress.
Also known as:
Key symptoms:
Developmental delaysIntellectual disabilityUnusual facial featuresShort stature or growth problemsLow muscle toneSpeech and language delaysLearning difficultiesFeeding difficulties in infancyHeart defectsSeizuresBehavioral challengesSmall head sizeDelayed motor milestones such as sitting and walking
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 19 syndrome.
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Specialists
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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 19 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.What specific part of chromosome 19 is deleted, and what does that mean for my child's health?,What developmental milestones should we watch for, and when should we be concerned?,Which specialists should we see regularly, and how often?,Are there any heart or organ problems we need to screen for?,What early intervention therapies do you recommend starting right away?,Is there a risk that future children could have the same condition?,Are there any clinical trials or research studies we should know about?
Common questions about Partial deletion of chromosome 19 syndrome
What is Partial deletion of chromosome 19 syndrome?
Partial deletion of chromosome 19 syndrome is a rare genetic condition in which a piece of chromosome 19 is missing. Chromosomes carry our genetic instructions, and when a portion is deleted, it can affect how the body grows and develops. Because chromosome 19 contains many important genes, the specific symptoms depend on which part of the chromosome is missing and how large the deletion is. People with this condition may experience developmental delays, intellectual disability, distinctive facial features, growth problems, and sometimes birth defects affecting the heart or other organs. Some
At what age does Partial deletion of chromosome 19 syndrome typically begin?
Typical onset of Partial deletion of chromosome 19 syndrome is neonatal. Age of onset can vary across affected individuals.