Definition – what is the Cat Scream Syndrome?
Cri-du-chat syndrome (CDC syndrome) is a malformation syndrome named after the cat-like crying of the children. This rare disease is caused by a change in the chromosomes (chromosomal aberration). The cat crying syndrome affects more girls than boys (5:1) and occurs in about 1:40. 000 children.
Causes
The cause for the cat cry syndrome is a change in the chromosomes. When the egg is fertilized, there is a spontaneous loss (deletion) of a small part of chromosome 5. There is only a risk of inheritance if one parent is affected by a cat cry syndrome.
Diagnosis
The cat cry syndrome is not noticeable before birth. After birth the disease may be suspected due to the specific symptoms and characteristic appearance. For diagnosis, a genetic examination in the form of chromosome analysis is then performed. This provides information as to whether there is a change on chromosome 5.
By these symptoms I recognize a cat cry syndrome
The characteristic and also name-giving symptom of the cat scream syndrome is the cat-like screaming of the children already directly after the birth. This is caused by a malformation of the larynx. This malformation also leads to a whistling sound when breathing in and out (stridor).
Other abnormalities can be found in those affected. These include the four-finger furrow, a furrow on the inside of the hand, which occurs mainly in genetic diseases. Furthermore, there are changes in the area of the face: a small head, a widened nose root, a small lower jaw and therefore the chin appears to be shifted back.
An epicanthus, i.e. a fold of skin at the corners of the eyes and eyelids is also typical. In the context of the cat cry syndrome, skeletal malformations such as a spinal curvature (scoliosis) and short metacarpals and foot bones can also occur. In general, affected persons are affected by short stature and underweight.
Furthermore, heart defects, especially an atrial septum defect, can occur. Patients with a cat cry syndrome have a reduced intelligence. Their IQ is in most cases below 35.
