Cat Scream Syndrome
Definition - What is Cat Scream Syndrome?
The cat cry syndrome (also called Cri-du-chat syndrome, CDC syndrome) is a malformation syndrome that was named after the cat-like screaming of children. This rare disease is caused by changes in the chromosomes (Chromosomal aberration). Cat cry syndrome affects more girls than boys (5: 1) and occurs in about 1 in 40,000 children.
Read more on the subject at: Chromosome aberration - what is it?
causes
The cause of the cat cry syndrome lies in a change in the chromosomes. When the egg is fertilized, loss occurs spontaneously (Deletion) a small part of chromosome 5. There is only a risk of inheritance if one of the parents has cat-cry syndrome.
Read more on the subject at: Chromosomal aberration
diagnosis
The cat cry syndrome is not noticeable before birth. After the birth, the specific symptoms and the characteristic appearance can lead to suspicion of the disease. A genetic examination in the form of a chromosome analysis is then carried out for diagnosis. This provides information about whether there is a change in chromosome 5.
I recognize cat cry syndrome by these symptoms
The characteristic and eponymous symptom of the cat cry syndrome is the cat-like crying of the children right after birth. This is caused by a malformation of the larynx. This malformation also leads to a whistling noise during inhalation and exhalation (Stridor).
Other abnormalities can be found in those affected. This includes the four-finger furrow, a furrow on the inside of the hand that occurs mainly in genetic diseases. Furthermore, there are changes in the area of the face: a small head, a widened root of the nose, 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 curvature of the spine (Scoliosis) and short metacarpal and foot bones occur. In general, those affected by short stature and underweight are affected.
Heart defects, especially an atrial septal defect, can also occur. Patients with cat cry syndrome have decreased intelligence. Your IQ will be below 35 in most cases.
treatment
There is only symptomatic treatment for the cat cry symptom. A cure is not possible. The treatment consists of the interplay of physiotherapy, occupational therapy and speech therapy. It is also important to ensure early psychological and physical support.
Duration / forecast
A cure for the cat cry syndrome is not possible.
Depending on the severity of the syndrome, its accompanying symptoms and the treatment, life expectancy is not restricted in those affected.
