Genetic Diseases


Cri du Chat Syndrome

A few words about Cri du Chat Syndrome

Cri du chat is a rare genetic condition and one of its most identifiable symptom is a monotone weak cat like cry in infants. This is the symptom for which the syndrome was named “cri du chat” is French for “cats cry”. The syndrome is also known as Cat’s-cry syndrome, Le Jeune’s Syndrome or 5P minus syndrome. Cri du Chat Syndrome can be the result of six different genetic arrangements of the patients number 5 chromosomes, these various arrangements very simply stated are caused by pieces of chromosomes breaking off and being lost or reattaching themselves to either itself or another chromosome in a new order. The syndrome affects both males and females with a slightly higher percentage of females suffering from it. The severity of the symptoms and effects of the syndrome varies from mild to severe depending upon the amount and location of chromosomal abnormality.

Signs and Symptoms of Cri du Chat Syndrome

The most easily recognised sign of this syndrome as mentioned above is the distinctive cry of the newborn. This high-pitched monotone voice although deepening with age will often remain with the patient into adulthood. A small head (microcephally) and other abnormalities of the head and face such as a round face, widely spaced eyes, small receding chin, high palate, low set ears, folds of skin over the upper eyelids and a low broad nasal ridge may also be apparent. Patients may also show a distinct crease pattern on the palms of their hands.
The abnormalities of the head and face may lead to problems such as minor hearing impairments and frequent ear infections, visual problems, saliva control problems and difficulty with sucking and swallowing. Gastric reflux is common and gastrointestinal abnormalities are present in some patients.

Causes of Cri du Chat Syndrome

As previously stated this syndrome is a genetic disorder of one or more of the patients number 5 chromosomes, 80% of cases are spontaneous, 10-13% is caused by an error in the number 5 chromosomes of a parent or parents and the final 7-10% of cases is attributed to rare genetic abnormalities.

Cri du Chat Syndrome Treatment

Speech therapy is a vitally important treatment for suffers, as many children with this syndrome experience speech developmental problems. Depending upon the degree of severity of the symptoms and the range of symptoms physiotherapy, occupational therapy and behavioural management can also be of great benefit to sufferers.

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