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Disease Profile
Cat eye syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Neonatal
ICD-10
Q92.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Schmid-Fraccaro syndrome; CES; Chromosome 22 partial tetrasomy;
Categories
Chromosome Disorders; Congenital and Genetic Diseases; Digestive Diseases;
Summary
Cat eye
Symptoms
- 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
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Anal atresia |
Absent anus
|
0002023 |
Preauricular pit |
Pit in front of the ear
|
0004467 |
Preauricular skin tag | 0000384 | |
30%-79% of people have these symptoms | ||
Abnormal localization of kidney |
Abnormal localisation of kidneys
|
0100542 |
Abnormality of cardiovascular system morphology | 0030680 | |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Hip dysplasia | 0001385 | |
Hydronephrosis | 0000126 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Iris coloboma |
Cat eye
|
0000612 |
Muscular |
Low or weak muscle tone
|
0001252 |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ] |
0008678 |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Abnormality of the genital system |
Genital abnormalities
Genital abnormality
Genital anomalies
Genital defects
[ more ] |
0000078 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] |
0001627 |
Absent radius |
Missing outer large bone of forearm
|
0003974 |
0000006 | ||
Biliary atresia | 0005912 | |
Cleft roof of mouth
|
0000175 | |
Growth abnormality |
Abnormal growth
Growth issue
[ more ] |
0001507 |
Intestinal malrotation | 0002566 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Renal agenesis |
Absent kidney
Missing kidney
[ more ] |
0000104 |
Stenosis of the external auditory canal |
Narrowing of passageway from outer ear to middle ear
|
0000402 |
Total anomalous pulmonary venous return | 0005160 |
Cause
Diagnosis
Karyotype a karyotype is a laboratory test that produces an image of a person'schromosomes .- 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 smallDNA sequence called aprobe that has a fluorescentmolecule 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
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
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnosis includes other chromosomal disorders with overlapping phenotypes such as CHARGE syndrome and VACTERL/VATER association (see these terms).
Visit the Orphanet disease page for more information.
|
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: +396 -95 06 05 03
E-mail: https://cateyesyndrome.info/contacts/national-contacts/cesi-usa/
Website: https://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: https://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: https://www.rarechromo.org/
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
- MedlinePlus Genetics 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.
References
- Cat-eye syndrome. Orphanet. January 2016; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=195.
- Cat Eye Syndrome. NORD. 2017; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1085/viewAbstract.
- Chromosome 22. Genetics Home Reference. September 2016; https://ghr.nlm.nih.gov/chromosome/22.
- 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; https://www.ncbi.nlm.nih.gov/omim/115470. Accessed 12/15/2016.
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