8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
Resource(s) for Medical Professionals and Scientists on This Disease:
This section is currently in development.
About 8p23.1 duplication syndrome
Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:
Population Estimate:Fewer than 50,000 people in the U.S. have this disease.
Symptoms:May start to appear as a Newborn and as an Infant.
Cause:This is caused by changes in the way information is arranged into chromosomes.
Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
Categories:Birth DefectGenetic Disease
When Do Symptoms of 8p23.1 duplication syndrome Begin?
Symptoms of this disease may start to appear as a Newborn and as an Infant.
The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear as a Newborn and as an Infant.
Symptoms
The number and severity of symptoms experienced may differ among people with this disease. Your experience may be different from others, and you should consult your primary care provider for more information.
This list is not all-inclusive, but the following symptoms have been linked to this disease:
Cardiovascular System Cardiovascular System
18 Symptoms
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List View
Tile View
List View
Cardiovascular System
The cardiovascular system is made up of the heart and blood vessels, including the arteries, veins, and capillaries. Common symptoms of problems in the cardiovascular system include high blood pressure, heart rate or heart rhythm problems, chest pain or discomfort, pain or tingling in the hands or feet, and fatigue. Diseases of the cardiovascular system may be diagnosed and treated by a cardiologist.
Medical Term
Abnormality of cardiovascular system morphology
Frequency
Uncommon
Frequent
Frequent
Always
Description
Any structural anomaly of the heart and great vessels.
Any structural anomaly of the heart and great vessels.
Synonym
Cardiovascular malformations
Cardiovascular malformations
18 Symptoms
Causes
Chromosome Disorder
8p23.1 duplication syndrome is a chromosome disorder, which means it is caused by changes in the way information is arranged into chromosomes.
What Is a Chromosome?
Chromosomes are thread-like structures found inside the nucleus of human cells. Each chromosome is made of DNA, and DNA is passed from parents to their children.
Humans usually have 46 chromosomes. The first 22 pairs of chromosomes, called autosomes, are found in males and females. The 23rd pair comprises the sex chromosomes. Each parent passes on 22 autosomes and one sex chromosome to their offspring.
The cells in our bodies must constantly divide and produce new cells. Chromosomes play a key role in making sure DNA is copied and passed along during cell division. However, on rare occasions, mistakes do occur. These mistakes can lead to chromosome disorders.
Chromosomes are thread-like structures found inside the nucleus of human cells. Each chromosome is made of DNA, and DNA is passed from parents to their children.
Humans usually have 46 chromosomes. The first 22 pairs of chromosomes, called autosomes, are found in males and females. The 23rd pair comprises the sex chromosomes. Each parent passes on 22 autosomes and one sex chromosome to their offspring.
The cells in our bodies must constantly divide and produce new cells. Chromosomes play a key role in making sure DNA is copied and passed along during cell division. However, on rare occasions, mistakes do occur. These mistakes can lead to chromosome disorders.
Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.
Services of patient organizations differ, but may include:
Ways to connect to others and share personal stories
Easy-to-read information
Up-to-date treatment and research information
Patient registries
Lists of specialists or specialty centers
Financial aid and travel resources
Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.
Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
What Are Clinical Studies?
Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
Observational studies involve recording changes over time among a specific group of people in their natural settings.
People participate in clinical trials for a variety of reasons. Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. Healthy volunteers may also participate to help others and to contribute to moving science forward.
How Do You Find the Right Clinical Study?
To find the right clinical study we recommend you:
Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
Consult doctors, other trusted medical professionals, and patient organizations.
Enroll in databases to allow researchers from participating institutions to find you.
What if There Are No Available Clinical Studies?
ResearchMatch helps connect people interested in research studies with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
GARDGenetic and Rare Diseases Information Center
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.
Learn about symptoms, cause, support, and research for a rare disease.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Find resources for patients and caregivers that address the challenges of living with a rare disease.
Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.
Data from Orphanet and Human Phenotype Ontology (HPO) are used to provide information on a disease's symptoms, genes, inheritance, population estimates, and more.
