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 … Cat Scream Syndrome
Treatment There is only one symptomatic treatment for the cat cry symptom. A cure is not possible. The treatment consists of the interaction of physiotherapy, occupational therapy and speech therapy. It is also important to ensure an early mental and physical support. Duration Prognosis A cure for the Cat Scream Syndrome is not possible. Depending … Treatment | Cat Scream Syndrome
What is Prader-Willi syndrome? Prader-Willi syndrome (PWS) is a rare syndrome caused by a defect in the genetic make-up. It occurs worldwide at about 1-9 per 100,000 births. Both boys and girls can be affected by Prader-Willi syndrome. Those affected are small in stature, already have low muscle tone as newborns and suffer from obesity … Prader-Willi syndrome
Treatment The Prader-Willi syndrome is not curable. The focus of symptomatic therapy is primarily on a strict diet. In this context, strict calorie restriction as well as a sufficient supply of vitamins and other nutrients must be ensured in order to prevent overweight and promote healthy development. Physiotherapy can help to promote the motor development … Treatment | Prader-Willi syndrome
What is Klinefelter syndrome? The Klinefelter syndrome occurs in about every 750th man. It is one of the most common congenital chromosomal diseases in which affected men have one sex chromosome too many. They usually have the karyotype 47XXY instead of the usual 46XY. The double X in the chromosome set leads to a testosterone … Klinefelter syndrome
How to treat Klinefelter syndrome Klinefelter’s syndrome cannot be treated from its cause. The disorder during meiosis can therefore not be reversed. However, since most of the symptoms of Klinefelter’s syndrome are caused by low testosterone levels, the therapy consists in supplying testosterone from the outside. This is also known as testosterone substitution. Depending on … How to treat Klinefelter syndrome | Klinefelter syndrome
Definition – what is a trisomy 13 in the unborn child? Trisomy 13, also called Pätau syndrome, is a change in the chromosomes in which chromosome 13 is present three times instead of twice. The disease is accompanied by malformations of several internal organs and can in many cases be detected before birth. Children born … Trisomy 13 in the unborn child
Associated symptoms As the neck wrinkle measurement is usually carried out in the 10th to 14th week of pregnancy, there are usually no symptoms or signs that the pregnant woman might notice before the diagnosis is made. If trisomy 13 remains undetected, symptoms only appear after birth due to the maldevelopment of the internal organs, … Associated symptoms | Trisomy 13 in the unborn child
What is Angelman syndrome? Angelman syndrome is a genetic disorder that causes mental and physical disability. Characteristic for the disease are above all the speech development disorder and excessive cheerfulness of the affected persons. Angelman syndrome occurs in boys and girls and affects about 1-9 per 100,000 births worldwide. It has similarities to Prader-Willi syndrome. … Angelman Syndrome
Definition – what is the Turner syndrome? Turner syndrome, also known as Monosomy X and Ullrich-Turner syndrome, is a genetic disorder that affects only girls. It was named after its discoverers, the German pediatrician Otto Ullrich and the American endocrinologist Henry H. Turner. Characteristic signs of the Turner syndrome are dwarfism and infertility. Turner syndrome … Turner Syndrome
I recognize a Turner syndrome by these symptoms There are a number of possible symptoms that can occur in Turner syndrome. However, these do not all occur simultaneously. Some symptoms can also be age-related. Already at birth, newborns are conspicuous by lymphedema of the backs of the hands and feet. The dwarfism is also noticed … I recognize a Turner syndrome by these symptoms | Turner Syndrome
Duration Prognosis Since the Turner syndrome is not curable, girls and women affected by the disease are accompanied by the disease throughout their lives. A regular medical examination is important, as there is an increased risk of various diseases. These include: High blood pressure, diabetes mellitus, overweight, osteoporosis, diseases of the thyroid gland and diseases … Duration Prognosis | Turner Syndrome
