Overview
Anomaly of chromosome 11 is a broad term that was previously used to describe a group of rare genetic conditions caused by structural changes in chromosome 11. This classification is now considered obsolete, meaning it has been replaced by more specific diagnoses as medical knowledge has advanced. Chromosome 11 is one of the 23 pairs of chromosomes in human cells, and it carries many important genes. When parts of chromosome 11 are missing (deleted), duplicated, rearranged, or otherwise altered, it can lead to a wide range of health problems depending on which genes are affected and how much of the chromosome is involved. The symptoms of chromosome 11 abnormalities vary greatly from person to person. They can include intellectual disability, developmental delays, distinctive facial features, growth problems, and birth defects affecting the heart, kidneys, or other organs. Some people may have mild symptoms, while others may be more severely affected. Because this is an obsolete umbrella term, patients who were previously given this diagnosis are now typically reclassified under more specific conditions such as Jacobsen syndrome (11q deletion syndrome), Beckwith-Wiedemann syndrome, or other defined chromosome 11 disorders. Treatment is based on the specific symptoms each person has and usually involves a team of specialists working together. There is no single cure, but many symptoms can be managed with appropriate medical care, therapies, and support services.
Key symptoms:
Intellectual disabilityDevelopmental delaysUnusual facial featuresGrowth problems (too short or too tall)Heart defects present at birthKidney abnormalitiesLow muscle toneFeeding difficulties in infancySpeech and language delaysLearning difficultiesBehavioral challengesHearing problemsVision problemsSkeletal abnormalitiesBleeding or clotting problems
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Anomaly of chromosome 11.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Anomaly of chromosome 11.
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 OBSOLETE: Anomaly of chromosome 11.
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 11 is affected, and does this match a more specific diagnosis?,What organs or body systems should we monitor most closely?,What therapies and early intervention services do you recommend starting now?,Are there any clinical trials or research studies we should know about?,What is the expected developmental outlook for my child based on this specific finding?,Should other family members be tested for this chromosomal change?,Can you refer us to a genetic counselor to discuss recurrence risk for future pregnancies?
Common questions about OBSOLETE: Anomaly of chromosome 11
What is OBSOLETE: Anomaly of chromosome 11?
Anomaly of chromosome 11 is a broad term that was previously used to describe a group of rare genetic conditions caused by structural changes in chromosome 11. This classification is now considered obsolete, meaning it has been replaced by more specific diagnoses as medical knowledge has advanced. Chromosome 11 is one of the 23 pairs of chromosomes in human cells, and it carries many important genes. When parts of chromosome 11 are missing (deleted), duplicated, rearranged, or otherwise altered, it can lead to a wide range of health problems depending on which genes are affected and how much o