Overview
Anomaly of chromosome 5 is a broad term that was previously used to describe a group of genetic conditions caused by changes in chromosome 5. This term is now considered obsolete in medical classification systems, meaning it has been replaced by more specific diagnoses. Chromosome 5 is one of the 23 pairs of chromosomes in human cells, and it contains many important genes. When parts of chromosome 5 are missing (deleted), duplicated, or rearranged, it can lead to a variety of health problems depending on which genes are affected. Some well-known conditions linked to chromosome 5 changes include Cri-du-chat syndrome (caused by a deletion on the short arm of chromosome 5) and various other partial deletions or duplications. Symptoms can vary widely depending on the exact type and location of the chromosome change. Common features may include intellectual disability, developmental delays, unusual facial features, growth problems, and birth defects affecting the heart or other organs. Because this is an umbrella term rather than a single specific condition, treatment depends entirely on the particular chromosome 5 abnormality a person has. Management is generally supportive and focuses on addressing individual symptoms through therapies, surgeries, and specialized medical care. If you or your child has been given this diagnosis, it is important to get a more specific genetic diagnosis so that doctors can provide the most accurate information about what to expect and how to manage the condition.
Key symptoms:
Intellectual disabilityDevelopmental delaysUnusual facial featuresGrowth problems or short statureLow muscle toneHeart defects present at birthSpeech and language delaysFeeding difficulties in infancyLearning difficultiesBehavioral challengesSeizuresSmall head sizeDelayed motor milestones like sitting or walking
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 5.
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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
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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 is the exact type and location of the chromosome 5 change in my child?,What specific symptoms or health problems should I watch for based on this diagnosis?,What therapies or early intervention services do you recommend starting now?,Are there any heart, brain, or organ problems that need to be checked with imaging or other tests?,What is the expected developmental outlook for my child's specific chromosome change?,Should other family members be tested for chromosome changes?,Are there any clinical trials or research studies that might be relevant?
Common questions about OBSOLETE: Anomaly of chromosome 5
What is OBSOLETE: Anomaly of chromosome 5?
Anomaly of chromosome 5 is a broad term that was previously used to describe a group of genetic conditions caused by changes in chromosome 5. This term is now considered obsolete in medical classification systems, meaning it has been replaced by more specific diagnoses. Chromosome 5 is one of the 23 pairs of chromosomes in human cells, and it contains many important genes. When parts of chromosome 5 are missing (deleted), duplicated, or rearranged, it can lead to a variety of health problems depending on which genes are affected. Some well-known conditions linked to chromosome 5 changes inclu