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The Genetic Support Network of Victoria GSNV is connected with a wide range of support groups throughout Victoria and Australia and can connect you with other individuals and families affected by cri du chat syndrome.
If your child has been diagnosed with cri du chat syndrome, or if it runs lifestyle chat your family, it can be helpful to speak to a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics.
As well as providing emotional support, they can help you to understand the condition and what causes it, how it is inherited, and what a diagnosis means for your child's health and for your family.
Genetic counsellors are trained to provide information and support that is sensitive to your family circumstances, culture and beliefs. If cri du chat syndrome runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family — to find out your risk of passing that condition on to your child, or to arrange for prenatal tests.
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The cause of birth defects is often unknown, speak to your GP if you are at increased risk of having a baby with a congenital anomaly. Latest research suggests that most cancers are caused by environmental rather than genetic factors.
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The information and materials contained on this website are not intended to constitute a comprehensive guide lifestyle chat all aspects of the therapy, product or treatment described on the website.
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Cri du chat syndrome. Actions lifestyle chat this Listen Print.
Summary Read the full fact sheet. On this. Symptoms of cri du chat syndrome Health problems for children with cri du chat syndrome Causes of cri du chat syndrome Severity of cri du chat syndrome lifestyle chat Treatment for cri du chat syndrome Support for parents of children with cri du chat syndrome Genetic counselling and cri du chat syndrome Where to get help. Cri du chat syndrome is a rare genetic disorder caused by a missing section on a particular chromosome known as Chromosome 5.
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Sometimes, material from another chromosome is missing as well. Around one in every 50, or so babies is diagnosed with this disorder. This estimate is coming down. With more advanced and frequent genetic testing, and many more milder cases being diagnosed, it may be as low as one in 25, Around a third as many girls as boys are affected. Chromosomes are responsible for our inherited characteristics such as eye colour.
In with cri du chat syndrome, some of the genes located on Chromosome 5 are missing, usually lifestyle chat reasons unknown. The impact of this can vary from one child to the next, but most will have delayed development and some degree of intellectual disability. There is no cure, but treatments including speech therapy, physiotherapy and occupational therapy can help the child to reach their full potential. Symptoms of cri du chat syndrome Cri du chat syndrome is often diagnosed at birth.
The symptoms in a newborn baby can include: a high-pitched, cat-like cry or weak cry low birth weight a small head a rounded face a broad, flattened bridge of the nose eyes spaced wide apart folds of skin over the eyelids abnormalities of the palate, such as an unusually narrow and high palate a receding, small chin malformations of the ears. Health problems for children with cri du chat syndrome Children with cri du chat syndrome commonly experience health problems including: difficulties with suckling and swallowing gastric reflux constipation high rate of infections, such as ear and upper respiratory tract infections poor muscle tone eye problems, such as a squint strabismus.
Other problems, which occur less frequently, include: hearing loss deformities of the skeleton, such as curvature of the spine scoliosis hernias heart and kidney problems. Causes of cri du chat syndrome No one knows what causes the deletion of certain genes on chromosome 5. In most cases, the abnormality happens spontaneously, with no family history. The risk of a couple with normal chromosomes having another child with cri du chat is around one per cent.
In some cases, one of the parents has abnormalities of Chromosome 5. Genetic counselling for these couples is important, as subsequent children may also have cri du chat syndrome.
Medical techniques such as amniocentesis, where a sample of amniotic fluid is examined, can determine whether or not an unborn baby has cri du chat syndrome. Amniocentesis is usually performed in the first trimester of pregnancy.
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Severity of cri du chat syndrome varies The severity of the condition can vary. Some children are only mildly affected, and reach their developmental milestones, such as walking and talking, at the usual ages. However, they may still need speech therapy. Other children are profoundly intellectually disabled, unable to walk or talk, and suffer from related health problems and a reduced life span. The majority of children born with cri du chat syndrome fall between these two extremes.
They have moderate intellectual disability, with varying degrees of speech delay and some health lifestyle chat, but most master walking some time before the age of six. It is impossible to predict whether or not a newborn baby with cri du chat syndrome will be mildly, moderately or severely affected.
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This will only become clear as the child lifestyle chat older. Treatment for cri du chat syndrome There is no cure for cri du chat syndrome. Treatment aims to stimulate the child and help them to reach their full potential and can include: physiotherapy to improve poor muscle tone speech therapy communication alternatives, such as language, since speech is usually delayed, often severely occupational therapy to teach coping strategies and new skills.
Support for parents of children with cri du chat syndrome Support services for parents of children with disabilities include: counselling information referral advocacy support groups.
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Genetic counselling and cri du chat syndrome If your child has been diagnosed with cri du chat syndrome, or if it runs in your family, it can be helpful to speak to a genetic counsellor. Give feedback about this. Was this helpful?
Yes No. View all genetic conditions. Related information. Support groups Cri Du Chat Support? Group of Australia. MedlinePlus Medical Encyclopedia: Cri du chat syndrome. Content disclaimer Content on this website is provided for information purposes only. Reviewed on: