Overview
Partial deletion of the long arm of chromosome 17 syndrome is a rare chromosomal disorder in which a piece of the long arm (called the 'q arm') of chromosome 17 is missing. This missing genetic material can affect many parts of the body, depending on exactly which segment is deleted and how large the deletion is. Because chromosome 17 contains many important genes that guide growth and development, losing part of it can lead to a wide range of problems. Common features may include intellectual disability, developmental delays (such as late walking or talking), distinctive facial features, growth problems, and sometimes birth defects affecting the heart, kidneys, or other organs. Some children may also have low muscle tone, feeding difficulties in infancy, and behavioral challenges. The severity varies greatly from person to person because the exact size and location of the deleted segment differs in each case. There is currently no cure for this condition. Treatment focuses on managing individual symptoms and supporting development. This may include early intervention therapies such as speech therapy, physical therapy, and occupational therapy, as well as medical care for any organ-related problems. A team of specialists typically works together to provide the best care for each individual.
Also known as:
Key symptoms:
Intellectual disabilityDelayed speech and language developmentDelayed motor milestones such as sitting and walkingDistinctive facial featuresLow muscle tone (floppiness)Short stature or growth delaysFeeding difficulties in infancyHeart defectsKidney or urinary tract abnormalitiesBehavioral challengesSeizuresSmall head sizeHearing problemsVision problemsSkeletal abnormalities
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 the long arm of chromosome 17 syndrome.
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Specialists
View all specialists →No specialists are currently listed for Partial deletion of the long arm of chromosome 17 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 the long arm of chromosome 17 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 is the exact size and location of my child's deletion, and what genes are affected?,Did this deletion happen spontaneously, or could it be inherited from a parent?,What specific medical complications should we watch for based on this deletion?,What early intervention therapies do you recommend starting right away?,How often should my child have follow-up testing for heart, kidney, hearing, and vision problems?,Are there any clinical studies or research programs we could participate in?,What is the long-term outlook for my child's development and independence?
Common questions about Partial deletion of the long arm of chromosome 17 syndrome
What is Partial deletion of the long arm of chromosome 17 syndrome?
Partial deletion of the long arm of chromosome 17 syndrome is a rare chromosomal disorder in which a piece of the long arm (called the 'q arm') of chromosome 17 is missing. This missing genetic material can affect many parts of the body, depending on exactly which segment is deleted and how large the deletion is. Because chromosome 17 contains many important genes that guide growth and development, losing part of it can lead to a wide range of problems. Common features may include intellectual disability, developmental delays (such as late walking or talking), distinctive facial features, gro
At what age does Partial deletion of the long arm of chromosome 17 syndrome typically begin?
Typical onset of Partial deletion of the long arm of chromosome 17 syndrome is neonatal. Age of onset can vary across affected individuals.