Overview
Anomaly of chromosome 14 is a broad term that was previously used to describe a group of rare genetic conditions caused by structural or numerical changes in chromosome 14. This classification is now considered obsolete, meaning it has been replaced by more specific diagnoses as medical understanding has improved. Chromosome 14 is one of the 23 pairs of chromosomes in human cells, and it carries many important genes. When parts of chromosome 14 are missing (deleted), duplicated, rearranged, or when there are extra or fewer copies than normal, it can lead to a wide range of health problems. The symptoms and severity depend on exactly which part of chromosome 14 is affected and how much genetic material is changed. Common features may include intellectual disability, developmental delays, distinctive facial features, growth problems, and sometimes organ abnormalities. 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 are now typically reclassified into more specific conditions such as ring chromosome 14 syndrome, chromosome 14 deletions, or uniparental disomy 14. 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 disabilityDelayed speech and language developmentDelayed motor milestones like sitting and walkingUnusual facial featuresLow muscle tone (floppiness)Short stature or growth delaysSeizures or epilepsyFeeding difficulties in infancyHeart defectsSmall head sizeBehavioral challengesLearning difficultiesVision or hearing 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 14.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Anomaly of chromosome 14.
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 14.
Community
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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 specific type of chromosome 14 abnormality does my child have, and what does it mean?,What symptoms or health problems should I watch for as my child grows?,What therapies and early intervention services do you recommend starting now?,How often should my child be seen by specialists, and which ones?,Are there any genetic implications for other family members or future pregnancies?,What is the expected developmental outlook for my child based on their specific diagnosis?,Are there any clinical trials or research studies we should know about?
Common questions about OBSOLETE: Anomaly of chromosome 14
What is OBSOLETE: Anomaly of chromosome 14?
Anomaly of chromosome 14 is a broad term that was previously used to describe a group of rare genetic conditions caused by structural or numerical changes in chromosome 14. This classification is now considered obsolete, meaning it has been replaced by more specific diagnoses as medical understanding has improved. Chromosome 14 is one of the 23 pairs of chromosomes in human cells, and it carries many important genes. When parts of chromosome 14 are missing (deleted), duplicated, rearranged, or when there are extra or fewer copies than normal, it can lead to a wide range of health problems. Th
At what age does OBSOLETE: Anomaly of chromosome 14 typically begin?
Typical onset of OBSOLETE: Anomaly of chromosome 14 is neonatal. Age of onset can vary across affected individuals.