Overview
Anomaly of chromosome 6 is a broad term that was previously used to describe a group of rare genetic conditions caused by changes in the structure or number of chromosome 6. This entry has been marked as obsolete in medical databases, meaning it has been replaced by more specific diagnoses as our understanding of genetics has improved. Chromosome 6 is one of the 23 pairs of chromosomes in human cells, and it carries many important genes that help the body develop and function properly. When parts of chromosome 6 are missing (deleted), duplicated, rearranged, or otherwise altered, it can lead to a wide range of health problems depending on which genes are affected. Symptoms can vary greatly from person to person, but common features may include intellectual disability, developmental delays, distinctive facial features, growth problems, and birth defects affecting the heart or other organs. Some individuals may have mild symptoms while others can be more severely affected. Because this is an obsolete umbrella term, patients who were previously given this diagnosis may now have a more specific condition identified, such as a deletion or duplication of a particular region on chromosome 6. Treatment is generally supportive and tailored to each person's specific symptoms, as there is no single cure for chromosomal abnormalities. Early intervention services, therapies, and regular medical follow-up can help improve quality of life.
Key symptoms:
Intellectual disabilityDevelopmental delaysUnusual facial featuresShort stature or growth problemsLow muscle toneHeart defects present at birthFeeding difficulties in infancySpeech and language delaysSeizuresVision problemsHearing lossBehavioral challengesKidney or urinary tract abnormalitiesSkeletal 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 OBSOLETE: Anomaly of chromosome 6.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Anomaly of chromosome 6.
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 6.
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 6 is affected in my child, and what does that mean for their health?,What symptoms should I watch for as my child grows?,What therapies and early intervention services do you recommend starting now?,Are there any organs, like the heart or kidneys, that need to be checked regularly?,Should other family members be tested for chromosomal changes?,Are there any clinical trials or research studies that might be relevant?,Can you refer us to a genetic counselor to help us understand the diagnosis and recurrence risk?
Common questions about OBSOLETE: Anomaly of chromosome 6
What is OBSOLETE: Anomaly of chromosome 6?
Anomaly of chromosome 6 is a broad term that was previously used to describe a group of rare genetic conditions caused by changes in the structure or number of chromosome 6. This entry has been marked as obsolete in medical databases, meaning it has been replaced by more specific diagnoses as our understanding of genetics has improved. Chromosome 6 is one of the 23 pairs of chromosomes in human cells, and it carries many important genes that help the body develop and function properly. When parts of chromosome 6 are missing (deleted), duplicated, rearranged, or otherwise altered, it can lead t
At what age does OBSOLETE: Anomaly of chromosome 6 typically begin?
Typical onset of OBSOLETE: Anomaly of chromosome 6 is neonatal. Age of onset can vary across affected individuals.