Overview
Anomaly of chromosome 4 is a broad term that was previously used to describe a group of rare genetic conditions caused by changes in chromosome 4. This term is now considered obsolete in medical classification systems, meaning it has been replaced by more specific diagnoses as our understanding of genetics has improved.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 4 is one of the 23 pairs of chromosomes in human cells, and changes to it — such as missing pieces (deletions), extra pieces (duplications), or rearrangements — can lead to a wide range of health problems depending on which part of the chromosome is affected. People with chromosome 4 abnormalities may experience intellectual disability, developmental delays, distinctive facial features, growth problems, and birth defects affecting the heart or other organs. The specific symptoms vary greatly depending on the exact location and size of the chromosomal change. Some well-known conditions involving chromosome 4 include Wolf-Hirschhorn syndrome (caused by a deletion on the short arm of chromosome 4) and various duplications or rearrangements. Because this is an umbrella term rather than a single disease, treatment is tailored to each person's specific symptoms. There is no single cure, but early intervention services, therapies, and medical management of individual symptoms can significantly improve quality of life. Patients are typically followed by a team of specialists depending on which body systems are affected.
Key symptoms:
Intellectual disabilityDevelopmental delaysUnusual facial featuresShort stature or growth problemsLow muscle toneHeart defectsSeizuresFeeding difficulties in infancySpeech and language delaysLearning difficultiesSkeletal abnormalitiesKidney or urinary tract problemsHearing lossVision problems
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 4.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Anomaly of chromosome 4 at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Anomaly of chromosome 4.
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 4.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Anomaly of chromosome 4.
Start the conversation →Latest news about OBSOLETE: Anomaly of chromosome 4
No recent news articles for OBSOLETE: Anomaly of chromosome 4.
Follow this condition to be notified when news becomes available.
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 4 is affected, and what does that mean for my child's health?,What symptoms should I watch for as my child grows?,What early intervention therapies do you recommend starting now?,Should other family members be tested for chromosome changes?,How often should we schedule follow-up appointments and screenings?,Are there any clinical trials or research studies we should know about?,Can you connect us with a genetic counselor to discuss family planning?
Common questions about OBSOLETE: Anomaly of chromosome 4
What is OBSOLETE: Anomaly of chromosome 4?
Anomaly of chromosome 4 is a broad term that was previously used to describe a group of rare genetic conditions caused by changes in chromosome 4. 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 4 is one of the 23 pairs of chromosomes in human cells, and changes to it — such as missing pieces (deletions), extra pieces (duplications), or rearrangements — can lead to a wide range of health problems depending on which part of the chromosome is affected. People
At what age does OBSOLETE: Anomaly of chromosome 4 typically begin?
Typical onset of OBSOLETE: Anomaly of chromosome 4 is neonatal. Age of onset can vary across affected individuals.