Overview
Anomaly of chromosome 9 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 9. This term is now considered obsolete in medical classification systems, meaning it has been replaced by more specific diagnoses as our understanding of genetics has improved. Chromosome 9 abnormalities can include extra copies of part or all of the chromosome (trisomy 9), missing pieces (deletions), or rearrangements of genetic material. Because chromosome 9 contains many important genes, changes to this chromosome can affect multiple body systems. Symptoms vary widely depending on the exact type and location of the chromosomal change, but may include intellectual disability, growth delays, heart defects, distinctive facial features, and skeletal abnormalities. Some individuals may have mild symptoms while others are more severely affected. Treatment is based on managing the specific symptoms each person experiences, as there is no single cure for chromosomal abnormalities. If you or your child has been told they have a chromosome 9 anomaly, it is important to work with a geneticist to get a more precise diagnosis, which will help guide care and provide better information about what to expect.
Key symptoms:
Intellectual disability or learning difficultiesDelayed growth before and after birthHeart defects present at birthDistinctive facial featuresSkeletal abnormalitiesDelayed developmental milestonesLow muscle toneFeeding difficulties in infancySeizuresKidney or urinary tract problemsVision problemsHearing lossShort stature
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 9.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Anomaly of chromosome 9.
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 9.
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 type of chromosome 9 change my child has, and can we get a more specific diagnosis?,What body systems should we monitor most closely based on this specific chromosomal change?,What early intervention therapies do you recommend starting right away?,Are there any heart, kidney, or brain abnormalities we should screen for?,What is the chance of this happening again in a future pregnancy?,Are there any clinical trials or research studies we should know about?,Can you refer us to a genetic counselor to help us understand the results?
Common questions about OBSOLETE: Anomaly of chromosome 9
What is OBSOLETE: Anomaly of chromosome 9?
Anomaly of chromosome 9 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 9. This term is now considered obsolete in medical classification systems, meaning it has been replaced by more specific diagnoses as our understanding of genetics has improved. Chromosome 9 abnormalities can include extra copies of part or all of the chromosome (trisomy 9), missing pieces (deletions), or rearrangements of genetic material. Because chromosome 9 contains many important genes, changes to this chromosome can aff
At what age does OBSOLETE: Anomaly of chromosome 9 typically begin?
Typical onset of OBSOLETE: Anomaly of chromosome 9 is neonatal. Age of onset can vary across affected individuals.