Cri
Du Chat SyndromeThis chromosomal abnormality, where a small telomeric
piece of the short arm of chromosome 5 is missing, was detected first in the newborn
nursery because of a cat-like cry of a baby. The French expression for “cry
of a kitten” is what gave this syndrome its name. It occurs at a rate of 1 in
50,000. Signs and symptoms
A
number of abnormalities are found in this syndrome. There is a short stature,
a small head (microcephaly), and a moonlike
face. The eyes are too far apart (hypertelorism) and there is a wide and
flat nose. The roof of the mouth is higher than normal, which leads to feeding
and eating problems. There is an accentuated skin fold over the inner eyelids
(nasal epicanthic folds). The ears are low set and may be malformed. The hand
has an abnormal crease, called simian
crease that helps in the diagnosis of this condition. Congenital heart
diseases such as ventricular and atrial septal defects are common. Mental retardation
is part of the syndrome. Prognosis By 2 years of
age about 33% of the children will lose the cat-like cry. Depending on the malformations
present these individuals may lead a relatively normal life except for learning
difficulties and behavior problems (aggression, hyperactivity, repetitive movements).
Most cases will enter puberty normally, but males have smaller testicles, while
women have uterus malformations (bicornuate uterus). The degree of mental retardation
will determine whether these individuals can form a lasting relationship; the
more severe forms will end up in care homes.
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