Cri du chat syndrome is a chromosome problem caused past a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) considering afflicted babies ofttimes have a high-pitched cry.
Not all babies with the missing slice of chromosome five will develop cri du chat syndrome. Cri du conversation syndrome may cause a variety of abnormalities, especially affecting the head and confront. Other features may include learning difficulties and boring growth and development.
In that location is no specific treatment. Yet, physiotherapy, speech and language therapy, and surgical treatment for some abnormal features may be needed. Many afflicted children will survive well into adulthood. However, those babies severely affected may die inside the starting time year of life.
Understanding chromosomes and prison cell sectionalization
Chromosomes are establish in the centre (nucleus) of a cell. They comport genetic data in the form of genes. 'Genetic' means that the condition is passed on through families by special codes called genes. Each cell of your body contains chromosomes which are made up of many genes.
In general, each jail cell in your body contains 46 chromosomes arranged in 23 pairs. One chromosome from each pair is inherited from your mother and the other is inherited from your begetter.
1 of these chromosome pairs is known as the sex chromosomes because this pair determines our sex. Females accept two of the same kind of sexual practice chromosome (Xx). Males have two dissimilar sex chromosomes (XY). The Y chromosome contains the male person determining genes. So, a normal female is 46, XX and a normal male is 46, XY. The other 22 pairs of chromosomes are numbered according to size with i being the longest pair and 22 being the shortest pair of chromosomes.
Nevertheless, egg and sperm cells just take 23 chromosomes (1 chromosme from each pair). This is so that, when an egg and a sperm meet during conception, the child that is produced likewise has 46 chromosomes in each cell.
New body cells are produced for growth and repair by cells dividing, producing ii 'girl' cells. Each chromosome can duplicate an exact copy of itself so that each new cell that is formed has a full, identical set of chromosomes.
Rarely, there is a problem with the child'due south chromosomes. Possible issues include too many chromosomes, too few chromosomes or impairment to i or more than chromosomes. The abnormal chromosomes may mean that the baby cannot survive and so may cause a miscarriage. However, babies with some chromosome abnormalities may survive but are afflicted by various medical problems (called a syndrome).
What causes cri du chat syndrome?
Cri du chat syndrome is a chromosome problem acquired past a missing piece of chromosome 5. The missing piece of the chromosome is the short (called 'p') arm of chromosome 5. Therefore cri du chat syndrome is said to be caused by deletion of chromosome 5p.
Most cases are idea to occur as a result of harm to the chromosome during the development of the egg or sperm.
What are the features of cri du conversation syndrome?
Not all babies with a missing short arm of chromosome 5 volition develop cri du conversation syndrome. Some will accept only very mild abnormal features or have no abnormal features at all.
There are a number of features of cri du chat syndrome, which include:
The baby has a weep which is loftier-pitched and has been described every bit sounding similar a true cat. The mewing cry becomes less obvious with increasing historic period.
Sucking and feeding problems are mutual in the showtime twelvemonth of life.
Features in the infant's head may include a small head (microcephaly), small jaw (micrognathia) and broad-set up eyes.
Abnormal features in the face also include downwardly slant to the eyes, low or abnormally shaped ears and skin tags in front of the ear. There may exist an extra fold of skin over the inner corner of the eye (epicanthic fold).
(Past Paola Cerruti Mainardi, via Wikimedia Commons)
Abnormal features in the hands and feet include partial webbing or joining together (fusing) of the fingers or toes. In that location may be a single line (crease) in the palm of the mitt (there are normally 2 skin creases).
The affected newborn baby may exist pocket-size and grow slowly. The affected child may have learning difficulties. There may be slow development of motor skills (eg, a delay in walking) and of speech and language.
Other features may include a hernia in the groin and separation of the muscles in the tummy. There is also an increased run a risk of heart defects and abnormalities in the encephalon, kidneys or gut (bowel).
How common is cri du chat syndrome?
Cri du conversation syndrome is very rare. It affects most ane in every 30,000 newborn babies.
How is cri du chat syndrome diagnosed?
Cri du chat syndrome can either be diagnosed earlier birth (prenatally) or after birth (postnatally).
Prenatal diagnosis
Diagnosis earlier birth may exist made by ultrasound or by testing the baby'due south chromosomes during the pregnancy. Come across the split up leaflets called Amniocentesis, Chorionic Villus Sampling and Ultrasound Scan.
Postnatal diagnosis
Diagnosis after nascence will exist made by investigations if a baby has whatever features suggesting cri du conversation syndrome. See the separate leaflet called Genetic Testing. The parents of a child with cri du conversation syndrome should as well have genetic testing to find out whether one parent has a change in chromosome 5.
Further tests will be needed to assess whatsoever features associated with cri du conversation syndrome (eg, a skull X-ray and a magnetic resonance imaging (MRI) scan to appraise any skull and face up abnormalities or an ultrasound scan of the centre (echocardiogram) to assess any centre defects).
What is the treatment for cri du chat syndrome?
In that location is no specific handling for cri du chat syndrome. However, affected babies and children may need a great deal of physiotherapy and speech and language therapy. Provision of early special schooling and a supportive home environment helps in development of social and intellectual ability. Surgical treatment may exist needed to correct some abnormal features (for example, hernia) or whatsoever other associated features (for example, eye defects).
What is the prognosis for cri du chat syndrome?
The outlook (prognosis) depends on the severity of aberrant features. Learning difficulties and spoken communication and linguistic communication bug are common. However, near people with cri du chat syndrome survive well into adulthood.
Nearly 1 in ten babies built-in with cri du conversation syndrome are severely affected and die inside the first year of life. Intellectual disability is mutual.
Because of the caput and face abnormalities, serious lung infection (pneumonia) is more common.
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