Overview
Anomaly of chromosome 18 is a broad term that was previously used to describe a group of genetic conditions caused by changes in chromosome 18. This term is now considered obsolete because it has been replaced by more specific diagnoses, such as Trisomy 18 (Edwards syndrome), Monosomy 18p, Monosomy 18q, Ring chromosome 18, and other structural rearrangements of chromosome 18. Each of these conditions has its own distinct set of symptoms and outcomes. Chromosome 18 abnormalities can affect many parts of the body. Common features may include intellectual disability, growth delays, distinctive facial features, heart defects, and problems with other organs. The severity of symptoms depends on which part of chromosome 18 is affected and how much genetic material is missing, extra, or rearranged. Treatment for chromosome 18 abnormalities is supportive and depends on the specific symptoms each person has. There is no cure, but early intervention services, therapies, surgeries for heart or other organ problems, and educational support can significantly improve quality of life. If you or your child has been given this diagnosis, it is important to work with a geneticist to determine the exact type of chromosome 18 change, as this will guide care and provide more accurate information about what to expect.
Key symptoms:
Intellectual disabilityDelayed growth before and after birthDistinctive facial featuresHeart defects present at birthLow muscle toneFeeding difficulties in infancyDelayed speech and language developmentDelayed motor milestones like sitting and walkingHearing lossVision problemsSeizuresShort statureSmall head sizeSkeletal abnormalitiesBehavioral challenges
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 18.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Anomaly of chromosome 18.
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 18.
Community
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Caregiver Resources
NORD Caregiver Resources
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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 of chromosome 18 change my child has, and what does it mean?,What symptoms and health problems should I watch for as my child grows?,What early intervention services and therapies do you recommend starting now?,Does my child need a heart evaluation or other organ screening?,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 diagnosis better?
Common questions about OBSOLETE: Anomaly of chromosome 18
What is OBSOLETE: Anomaly of chromosome 18?
Anomaly of chromosome 18 is a broad term that was previously used to describe a group of genetic conditions caused by changes in chromosome 18. This term is now considered obsolete because it has been replaced by more specific diagnoses, such as Trisomy 18 (Edwards syndrome), Monosomy 18p, Monosomy 18q, Ring chromosome 18, and other structural rearrangements of chromosome 18. Each of these conditions has its own distinct set of symptoms and outcomes. Chromosome 18 abnormalities can affect many parts of the body. Common features may include intellectual disability, growth delays, distinctive f
At what age does OBSOLETE: Anomaly of chromosome 18 typically begin?
Typical onset of OBSOLETE: Anomaly of chromosome 18 is neonatal. Age of onset can vary across affected individuals.