Enna Paula P.

Baltazar
Cri-du-chat syndrome
Cri du chat syndrome is a chromosome problem caused by a missing piece
of chromosome 5. The syndrome is called cri du chat (French for cry of the
cat) because affected babies often have a high-pitched cry.
Not all babies with the missing piece of chromosome 5 will develop cri du
chat syndrome. Cri du chat syndrome may cause a variety of abnormalities,
especially affecting the head and face. Other features may include learning
difficulties and slow growth and development.

What causes cri du chat syndrome?

Cri du chat syndrome is a chromosome problem caused by a missing piece
of chromosome 5. The missing piece of the chromosome is the short
(called 'p') arm of chromosome 5. Therefore cri du chat syndrome is said to
be caused by deletion of chromosome 5p.
Most cases are thought to occur as a result of damage to the chromosome
during the development of the egg or sperm.

What are the features of cri du chat syndrome?

Not all babies with a missing short arm of chromosome 5 will develop cri du
chat syndrome. Some will have only very mild abnormal features or have
no abnormal features at all.

There are a number of features of cri du chat syndrome, which include:

 The baby has a cry which is high-pitched and has been described as
sounding like a cat. The mewing cry becomes less obvious with
increasing age.
 Sucking and feeding problems are common in the first year of life.
 Features in the baby's head may include a small head (microcephaly),
small jaw (micrognathia) and wide-set eyes.
 Abnormal features in the face also include downward slant to the eyes,
low or abnormally shaped ears and skin tags in front of the ear. There
 may be an extra fold of skin over the inner corner of the eye (epicanthic
fold).
 Abnormal features in the hands and feet include partial webbing or
joining together (fusing) of the fingers or toes. There may be a single line
(crease) in the palm of the hand (there are normally two skin creases).
 The affected newborn baby may be small and grow slowly. The affected
child may have learning difficulties. There may be slow development of
motor skills (eg, a delay in walking) and of speech and language.
 Other features may include a hernia in the groin and separation of the
muscles in the tummy. There is also an increased risk of heart defects
and abnormalities in the brain, kidneys or gut (bowel).

How common is cri du chat syndrome?

Cri du chat syndrome is very rare. It affects about 1 in every 30,000
newborn babies.

How is cri du chat syndrome diagnosed?

Cri du chat syndrome can either be diagnosed before birth (prenatally) or
after birth (postnatally).

Prenatal diagnosis
Diagnosis before birth may be made by ultrasound or by testing the baby's
chromosomes during the pregnancy. See the separate leaflets
called Amniocentesis, Chorionic Villus Sampling and Ultrasound Scan.

Postnatal diagnosis
Diagnosis after birth will be made by investigations if a baby has any
features suggesting cri du chat syndrome. The parents of a child with cri du
chat syndrome should also have genetic testing to find out whether one
parent has a change in chromosome 5.
Further tests will be needed to assess any features associated with cri du
chat syndrome (eg, a skull X-ray and a magnetic resonance imaging (MRI)
scan to assess any skull and face abnormalities or an ultrasound scan of
the heart (echocardiogram) to assess any heart defects).
What is the treatment for cri du chat syndrome?
There is no specific treatment for cri du chat syndrome. However, affected
babies and children may need a great deal of physiotherapy and speech
and language therapy. Provision of early special schooling and a
supportive home environment helps in development of social and
intellectual ability. Surgical treatment may be needed to correct some
abnormal features (for example, hernia) or any other associated features
(for example, heart defects).

What is the prognosis for cri du chat syndrome?

The outlook (prognosis) depends on the severity of abnormal features.
Learning difficulties and speech and language problems are common.
However, most people with cri du chat syndrome survive well into
adulthood.
About 1 in 10 babies born with cri du chat syndrome are severely affected
and die within the first year of life. Intellectual disability is common.

Because of the head and face abnormalities, serious lung infection

(pneumonia) is more common.