• Cat Eye Syndrome

Disease at a Glance

Summary
Cat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart, and/or kidney. In people affected by Cat eye syndrome, each cell has at least one small extra (duplicate) chromosome made up of genetic material from chromosome 22. This extra genetic material leads to the characteristic signs and symptoms of the condition. Most cases of Cat eye syndrome occur sporadically in people with no family history of the condition.
Resource(s) for Medical Professionals and Scientists on This Disease:
This section is currently in development.

About Cat eye 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 during Pregnancy and as a Newborn.
  • 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:Kidney DiseaseBirth DefectGenetic Disease
When Do Symptoms of Cat eye 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 from some diseases may begin at any age. Knowing when symptoms began to appear 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.
This information comes from Orphanet

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:
Digestive System Digestive System

20 Symptoms

Tile View
List View
Tile View
List View

Digestive System

The digestive system is made up of the esophagus, stomach, intestines, liver, pancreas, and gallbladder. Common symptoms of problems in the digestive system include blood in the stool, changes in bowel habits, severe abdominal pain, unintentional weight loss, or heartburn. Diseases affecting the digestive system may be diagnosed and treated by a gastroenterologist (GI specialist).
Medical Term

Anal atresia

Frequency
Uncommon
Very frequent
Very frequent
Always
Description

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.

Synonym

Imperforate anus

Imperforate anus

20 Symptoms
This information comes from the Human Phenotype Ontology (HPO)

Causes

Chromosome Disorder

Cat eye syndrome is a chromosome disorder, which means it is caused by changes in the way information is arranged into chromosomes.

What Are Chromosome Disorders?

A chromosome disorder occurs when there is a change in the number, size, or structure of the chromosomes. A numerical abnormality involves a missing or extra chromosome from the chromosome pair. A structural abnormality involves an alteration to the chromosome's structure. This change in the amount or structure of material can result in problems with growth and development.

Chromosome changes can be inherited from a parent or can happen by chance for the first time in a baby (de novo). An error called nondisjunction causes chromosomes to be separated and distributed unequally into new cells. As a result, some cells have too many chromosomes and other cells have too few. If the original egg cell or sperm cell has too many or too few chromosomes, then all the cells in the body will have the incorrect number of chromosomes.  If another cell later in development gains or loses a chromosome, then only some of the cells in the body will have the incorrect number of chromosomes.

Sources to Learn More: Chromosome Abnormalities Fact Sheet (NHGRI); Are Chromosomal Disorders Inherited? (MedlinePlus)A chromosome disorder occurs when there is a change in the number, size, or structure of the chromosomes. A numerical abnormality involves a missing or extra chromosome from the chromosome pair. A structural abnormality involves an alteration to the chromosome's structure. This change in the amount or structure of material can result in problems with growth and development.

Chromosome changes can be inherited from a parent or can happen by chance for the first time in a baby (de novo). An error called nondisjunction causes chromosomes to be separated and distributed unequally into new cells. As a result, some cells have too many chromosomes and other cells have too few. If the original egg cell or sperm cell has too many or too few chromosomes, then all the cells in the body will have the incorrect number of chromosomes.  If another cell later in development gains or loses a chromosome, then only some of the cells in the body will have the incorrect number of chromosomes.

Sources to Learn More: Chromosome Abnormalities Fact Sheet (NHGRI); Are Chromosomal Disorders Inherited? (MedlinePlus)
Read More

Advocacy and Support Groups

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.

Patient Organizations

6 Organizations

Organization Name

Who They Serve

Helpful Links

Country

Chromosome 22 Central
People With

Cat Eye Syndrome

Helpful Links
Country

United States

Unique – Rare Chromosome Disorder Support Group
People With

Cat Eye Syndrome

Helpful Links
Country

United Kingdom

EveryLife Foundation for Rare Diseases
People With

Rare Diseases

Helpful Links
Country

United States

Genetic Alliance
People With

Rare Diseases

Helpful Links
Country

United States

Global Genes
People With

Rare Diseases

Helpful Links
Country

United States

National Organization for Rare Disorders
People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

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:

  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 the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.

Why Participate in Clinical Studies?

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:

  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 the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.

Why Participate in Clinical Studies?

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.
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.
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.

Last Updated: February 2023