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Disease at a Glance

Summary
Ring chromosome 21 is a rare chromosome abnormality in which the ends of chromosome 21 join together to form a ring shape. Many people with Ring chromosome 21 have normal development and are healthy, having been diagnosed after having chromosome testing due to infertility, multiple miscarriages, or a child with a chromosome abnormality. However, others with Ring chromosome 21 have developmental and/or medical problems which can range from mild to severe. This is due to having extra or missing genetic material on the ring chromosome, which can happen when the ring chromosome forms. Signs and symptoms of Ring chromosome 21 that may be present can include short stature, delayed puberty in males, small head size, seizures, learning disabilities, underdeveloped sex organs, susceptibility to infections, and/or a variety of birth defects. Some people have signs and symptoms similar to those that occur in people with Down syndrome (also known as Trisomy 21). Ring chromosome 21 may be inherited from a parent (typically the mother), or it may occur sporadically (by chance) during the formation of egg or sperm cells or shortly after the egg and sperm join together. A chromosome test of the parents can help determine whether it was inherited and whether future children have an increased chance to have a chromosome abnormality.
Summary
Ring chromosome 21 is a rare chromosome abnormality in which the ends of chromosome 21 join together to form a ring shape. Many people with Ring chromosome 21 have normal development and are healthy, having been diagnosed after having chromosome testing due to infertility, multiple miscarriages, or a child with a chromosome abnormality. However, others with Ring chromosome 21 have developmental and/or medical problems which can range from mild to severe. This is due to having extra or missing genetic material on the ring chromosome, which can happen when the ring chromosome forms. Signs and symptoms of Ring chromosome 21 that may be present can include short stature, delayed puberty in males, small head size, seizures, learning disabilities, underdeveloped sex organs, susceptibility to infections, and/or a variety of birth defects. Some people have signs and symptoms similar to those that occur in people with Down syndrome (also known as Trisomy 21). Ring chromosome 21 may be inherited from a parent (typically the mother), or it may occur sporadically (by chance) during the formation of egg or sperm cells or shortly after the egg and sperm join together. A chromosome test of the parents can help determine whether it was inherited and whether future children have an increased chance to have a chromosome abnormality.
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Resource(s) for Medical Professionals and Scientists on This Disease:

About Ring chromosome 21 syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:This section is currently indevelopment.
  • Symptoms:May start to appear during Pregnancy and as a Newborn.
  • Cause:This disease is caused by changes to the number or structure of a person’s chromosomes.
  • Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
  • Categories:Birth DefectsGenetic Diseases
When Do Symptoms of Ring chromosome 21 syndrome Begin?
Symptoms of this disease may start to appear during Pregnancy and as a Newborn.

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 of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.
Prenatal Selected
Before Birth
Newborn Selected
Birth-4 weeks
Infant
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
Symptoms may start to appear during Pregnancy and as a Newborn.

Symptoms

The types of symptoms experienced, and their intensity, may vary among people with this disease. Your experience may be different from others. Consult your health care team for more information.

The following describes the symptom(s) associated with this disease along with the corresponding body system(s), description, synonyms, and frequency (Note: Not all possible symptoms may be listed):

28 Symptoms

28 Symptoms

28 Symptoms

Body Systems

Symptoms related to this disease may affect different systems of the body. Use the 'Filter and Sort' function to learn more about which body system(s) are affected by this disease and their associated symptom(s).

Causes

What Causes This Disease?

Genetic Mutations

Find Your Community

How Can Patient Organizations Help?

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.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page. Request an update or to have your organization added to GARD

Patient Organizations

6 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Ring chromosome 21 syndrome

Helpful Links
Country

United States

People With

Ring chromosome 21 syndrome

Helpful Links
Country

United Kingdom

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
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Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
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What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

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.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
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.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: September 2024