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Diseases » Cat Eye Syndrome » Summary

What is Cat Eye Syndrome?

What is Cat Eye Syndrome?

  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Cat Eye Syndrome: Coloboma of the iris (giving the appearance of a vertical pupil, hence the name "cat eye"), atresia of the anus, preauricular tags or fistulae, congenital cardiovascular abnormalities, urinary tract anomalies, and reduced growth rate. Mental retardation is not a consistent feature and, when present, it is usually mild.
    Source - Diseases Database

Cat Eye Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Cat Eye Syndrome, or a subtype of Cat Eye Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Cat Eye Syndrome as a "rare disease".
Source - Orphanet

Cat Eye Syndrome: Introduction

Types of Cat Eye Syndrome:

Broader types of Cat Eye Syndrome:

How serious is Cat Eye Syndrome?

Complications of Cat Eye Syndrome: see complications of Cat Eye Syndrome

What causes Cat Eye Syndrome?

Causes of Cat Eye Syndrome: see causes of Cat Eye Syndrome

What are the symptoms of Cat Eye Syndrome?

Symptoms of Cat Eye Syndrome: see symptoms of Cat Eye Syndrome

Complications of Cat Eye Syndrome: see complications of Cat Eye Syndrome

Cat Eye Syndrome: Testing

Diagnostic testing: see tests for Cat Eye Syndrome.

Misdiagnosis: see misdiagnosis and Cat Eye Syndrome.

How is it treated?

Doctors and Medical Specialists for Cat Eye Syndrome: Medical Geneticist ; see also doctors and medical specialists for Cat Eye Syndrome.
Treatments for Cat Eye Syndrome: see treatments for Cat Eye Syndrome

Name and Aliases of Cat Eye Syndrome

Main name of condition: Cat Eye Syndrome

Other names or spellings for Cat Eye Syndrome:

Ocular coloboma-imperforate anus, CES, chromosome 22, partial trisomy (22pter-22q11, chromosome 22, inverted duplication 22qter-22q11, Schmid-Fraccaro syndrome, Ocular coloboma [imperforate anus], Chromosome 22 partial tetrasomy, INV DUP(22)(Q11), Coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, heart and renal malformations, nea

Chromosome 22 partial tetrasomy, Ocular coloboma-imperforate anus syndrome, Schachenmann's syndrome, Schmid-Fraccaro syndrome Source - Diseases Database

CES, Chromosome 22, Inverted Duplication (22pter-22q11), Chromosome 22, Partial Tetrasomy (22pter-22q11), Chromosome 22, Partial Trisomy (22pter-22q11), Schmid-Fraccaro syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Cat Eye Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Cat Eye Syndrome:


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