Cat eye syndrome (CES) is a
rare condition usually caused by a small section of the short arm (p) as well
as the long arm (q) of human chromosome 22 being present in a trisomic manner
(three times) or a tetrasomic manner (four times) instead of the normal two.
This implies that there’s presence of an extra small chromosome derived from
chromosome 22, which happens to be smaller than chromosome 21. Chromosome 21 is
usually the smallest chromosome in human beings. Technically, this chromosome
represents a duplication and inversion of the chromosome band 22q11p. The name
cat eye was derived from the cat-like appearance of the iris of the victim’s
eye ("Medical
Definition of Cat eye syndrome", 2016).
The cat eye syndrome is
medically referred to as a constitutional chromosome abnormality displayed by
the combination of no anal opening (aka anal atresia) and a cat-like slit of
the iris of the patient’s eye (aka vertical coloboma). The presence of the
syndrome can occur at birth or even before birth. The following can also occur
frequently:
•
kidney anomalies
•
heart malformations
•
tissue tags or pits in front of the ears and
•
down slanting eye slits (palpebral fissures)
Unlike many other
constitutional chromosome abnormalities, there’s usually near-normal or normal
development with this type of syndrome. Victims of cat eye syndrome also
exhibit near-normal or normal intelligence. Synonyms for the cat eye syndrome
include ("Cat
Eye Syndrome", 2011):
•
Chromosome 22, Partial Trisomy (22pter-22q11)
•
CES
•
Schmid-Fraccaro Syndrome
•
Chromosome 22, Inverted Duplication (22pter-22q11)
•
Chromosome 22, Partial Tetrasomy (22pter-22q11)
Some of the major features
associated with cat eye syndrome include the following (Timoney &
MacNicholas, 200, p. 20):
•
Performance and behavior – mild conductive deafness
•
Nose – minimal epicanthal folds
and a depressed nasal bridge
•
Ears – prominent anthelices,
Preauricular skin tags or fistulae, atresia of auditory canals and hypoplastic
ear lobes
•
Head and Neck – retrognathia and
micrognathia
•
Urogenital System – hydronephrosis, bladder
fistula, and kidney hypoplasia or aplasia
•
Eyes – occasional microphthalmia,
hypertelorism, coloboma, microphthalmia, and downslanting palpebral fissures
•
Gastrointestinal System - mobile caecum and anal
atresia
•
Growth and development – mild to moderate growth
retardation and mental retardation
•
Cardiovascular system - tricuspid atresia,
ventricular septal defect, persistence of left superior vena cava, anomalous
pulmonary venous return, absence of the inferior vena cava, and tetralogy of
Fallot.
Only one person can have the
cat eye syndrome between 50,000 to 150,000 individuals in the world. As
mentioned earlier, it affects many body parts including the heart, ears, eyes,
and kidneys. A child born with this condition might experience mild learning or
developmental delays, problems with speech, or behavior issues. He or she may
also have a below average height and have missing ribs, fused vertebrae,
dislocated hips or a curved spine (medically known as scoliosis). Moreover,
kids with the cat eye syndrome may also experience trouble when hearing because
of the way their ears are shaped ("What Is Cat Eye Syndrome?†2016) These impairments are likely
to affect the performance of children with CES in the classroom since they can
tend to score very low grades. Poor grades can be attributed to their inability
to see and hear well or perceive sound or even write well due to weak limbs or
curved spine. Their general body weakness and defects can also lead to frequent
absenteeism in school.
Additional articles
Living with a Purpose; A Story of Two Testicular Cancer SurvivorsJason Greenspan was only 18 years old in May 2012 when the world came “tumbling down†for him. He was diagnosed with Testicular cancer just a few weeks before graduating from hig...A-Story-of-Two-Testicular-Cancer-Survivors- …
Read ArticleStructural racism in the United States is the normalization and the legitimization of various dynamics that may be historical, cultural, institutional, and interpersonal. It is the routine advantage of individuals of one race, religious affiliatio...Structured-inequalities-faced-by-Muslims-in-the-US …
Read ArticleAdvantages and Disadvantages of Globalization Globalization is a generally used term implying that the world has integrated economically, politically, culturally as well as socially by means of the advancement in technology, communicat...Advantages-and-Disadvantages-of-Globalization …
Read Article