Cat eye syndrome

Información en español Title

Other Names:

Schmid-Fraccaro syndrome; CES; Chromosome 22 partial tetrasomy; Schmid-Fraccaro syndrome; CES; Chromosome 22 partial tetrasomy; INV DUP(22)(Q11) See More

Categories:

Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases; Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Kidney and Urinary Diseases See More

Summary 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.^[1]^[2] 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.^[3] Most cases of cat eye syndrome occur sporadically in people with no family history of the condition. Treatment is symptomatic.^[2]

Last updated: 4/13/2015

Symptoms Symptoms

The signs and symptoms of cat eye syndrome vary, but may include:^[4]^[1]^[2]

Iris coloboma
Anal atresia (opening to the anus is missing)
Skin tags or pits in front of the ears
Unusually shaped ears
Conductive hearing loss
Hypertelorism (widely spaced eyes)
Downward slanting palpebral fissures (outside corners of the eyes point downward)
Strabismus
Cleft lip and/or palate
Congenital heart defects
Urinary tract problems
Skeletal abnormalities
Developmental delay
Mild to moderate intellectual disability

Last updated: 4/11/2015

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Anal atresia	Very frequent (present in 80%-99% of cases)
Preauricular pit	Very frequent (present in 80%-99% of cases)
Preauricular skin tag	Very frequent (present in 80%-99% of cases)
Abnormal localization of kidney	Frequent (present in 30%-79% of cases)
Abnormality of cardiovascular system morphology	Frequent (present in 30%-79% of cases)
Abnormality of the ribs	Frequent (present in 30%-79% of cases)
Chorioretinal coloboma	Frequent (present in 30%-79% of cases)
Downslanted palpebral fissures	Frequent (present in 30%-79% of cases)
Hip dysplasia	Frequent (present in 30%-79% of cases)
Hydronephrosis	Frequent (present in 30%-79% of cases)
Hypertelorism	Frequent (present in 30%-79% of cases)
Intellectual disability, mild	Frequent (present in 30%-79% of cases)
Intrauterine growth retardation	Frequent (present in 30%-79% of cases)
Iris coloboma	Frequent (present in 30%-79% of cases)
Muscular hypotonia	Frequent (present in 30%-79% of cases)
Renal hypoplasia/aplasia	Frequent (present in 30%-79% of cases)
Abnormality of the genital system	Occasional (present in 5%-29% of cases)
Hearing impairment	Occasional (present in 5%-29% of cases)
Microphthalmia	Occasional (present in 5%-29% of cases)
Abnormal heart morphology	-
Absent radius	-
Autosomal dominant inheritance	-
Biliary atresia	-
Growth abnormality	-
Intestinal malrotation	-
Low-set ears	-
Micrognathia	-
Renal agenesis	-
Stenosis of the external auditory canal	-
Total anomalous pulmonary venous return	-

Last updated: 8/1/2017

Cause Cause

Cat eye syndrome is most often caused by a chromosome abnormality called an inverted duplicated 22. In people with this condition, 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 cat eye syndrome.^[3]

Last updated: 12/15/2016

Inheritance Inheritance

Most cases of cat eye syndrome are not inherited. The condition generally occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass it on to children.^[2]^[1]

Rarely, cat eye syndrome is passed down from parent to child. Some of these cases are the result of a balanced translocation in one of the parents. Carriers of a balanced translocation generally do not have any unusual symptoms or health problems; however, they have an increased risk of having children with a chromosome abnormality. In other cases, the parent may have a small extra (duplicate) chromosome made up of genetic material from chromosome 22 in some (mosaicism) or all of their cells. Because the symptoms and severity can vary between family members, the parent may not have any obvious symptoms or may only be mildly affected.^[2]^[1]

Last updated: 4/11/2015

Diagnosis Diagnosis

A diagnosis of cat eye syndrome is often suspected based on the presence of characteristic signs and symptoms. Genetic testing can then be ordered to confirm the diagnosis. This testing may include:^[5]^[2]

Karyotype - a karyotype is a laboratory test that produces an image of a person's chromosomes.
FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it. The probe sequence binds to its corresponding sequence on the chromosome.

In some cases, cat eye syndrome can be diagnosed before birth. If suspicious features are observed on prenatal ultrasound, follow up testing such as an amniocentesis or chorionic villus sampling may be ordered to further investigate a diagnosis.^[5]^[2]

Last updated: 4/12/2015

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Because cat eye syndrome affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, congenital heart defects; anal atresia; cleft lip and/or palate; and certain skeletal abnormalities may require surgery. Children with delayed motor milestones (i.e. walking) may be referred for physical therapy or occupational therapy. Special education services are often necessary for children with intellectual disability.^[4]^[1]^[2]

Last updated: 4/12/2015

Prognosis Prognosis

The long-term outlook (prognosis) for people with cat eye syndrome varies from person to person and largely depends on the severity of the condition and the associated signs and symptoms. Some babies who are very severely affected die during infancy; however, most people with cat eye syndrome do not have a shortened life expectancy.^[5]

Last updated: 12/15/2016

Statistics Statistics

Around 1 out of 50,000 to one of out 150,000 people in the general population are thought to have cat eye syndrome.^[1]

Last updated: 12/15/2016

Do you have updated information on this condition? Let us know.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Cat Eye Syndrome International
via Casape 26
Rome, 00156 Italy
Telephone: +39- 6 -95 06 05 03
E-mail: direction@cateyesyndrome.info
Website: http://www.cateyesyndrome.info
Chromosome 22 Central - US Office
7108 Partinwood Drive
Fuquay-Varina, NC 27526
Telephone: 919-567-8167
E-mail: usinfo@c22c.org
Website: http://www.c22c.org
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: http://www.rarechromo.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Cat eye syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Cat eye syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

NCATS Co-Sponsored Conferences

Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion Thursday, May 28, 2009 - Saturday, May 30, 2009
Location: Hilton Anatole, Dallas, TX
Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.

Contact: Dr. Frank Evans, NHLBI301-402-2647

Co-funding Institute(s): National Heart, Lung, and Blood Institute
- Agenda ( - 708KB)
- Proceedings ( - 2908KB)
- Speakers ( - 85KB)
- Summary ( - 62KB)

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

How many people have cat eye syndrome? What is the prognosis, and is there a way to prevent it, such as a vaccine? See answer
What causes cat eye syndrome? See answer
Do children with Cat Eye Syndrome generally experience a decline in physical abilities as they reach adulthood? Is there any shortening of the lifespan associated with this condition? See answer

Have a question? Contact a GARD Information Specialist.

References References

Cat-eye syndrome. Orphanet. January 2016; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195. Accessed 12/15/2016.
Cat Eye Syndrome. NORD. 2002; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1085/viewAbstract.
Chromosome 22. Genetics Home Reference. September 2016; http://ghr.nlm.nih.gov/chromosome/22. Accessed 12/15/2016.
Rosa RF, Mombach R, Zen PR, Graziadio C, Paskulin GA. Clinical characteristics of a sample of patients with cat eye syndrome. Rev Assoc Med Bras. July-August 2010; 56(4):462-465.
Cat Eye Syndrome. OMIM. 2009; http://www.ncbi.nlm.nih.gov/omim/115470. Accessed 12/15/2016.