Cri-du-chat Syndrome

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Support Groups 5P- Society -- Outlook Prognosis Intellectual disability is common. Therefore cri du chat syndrome is said to be caused by deletion of chromosome 5p. Those with the disorder may experience a tough life because Cri du Chat can cause mental retardation and a characteristic physical appearance.

However, babies with some chromosome abnormalities may survive but are affected by various medical problems called a syndrome. If you do not want your question posted, please let us know. Some children with cri-du-chat syndrome are born with a heart defect.

Cri-du-chat Syndrome

Cri-du-chat syndrome is a genetic condition. Infants with the syndrome produce a high-pitched cry that sounds like a cat. The syndrome is more noticeable as the child ages, but becomes difficult to diagnose past age 2. Cri-du-chat also carries many disabilities and abnormalities. A small percentage of infants with cri-du-chat syndrome are with serious organ defects especially heart or kidney defects or other life-threatening complications that can result in death. Children with cri-du-chat who reach age 1 generally will have a normal life expectancy. But the child will most likely have lifelong physical or developmental complications. These complications will depend on the severity of the syndrome. About half of children with cri-du-chat syndrome learn enough words to communicate, and most grow up to be happy, friendly, and sociable. The exact reason for the chromosome 5 deletion is unknown. This means the child develops the syndrome when fertilization occurs. The syndrome is not typically inherited, though. Only about 10 percent of cases come from a parent who has a deleted segment, according to the. About 90 percent are presumed to be random mutations. This is a defect in the chromosome that does not result in the loss of genetic material. However, if you pass the defective chromosome to your child, it may become unbalanced. This results in the loss of genetic material and can cause cri-du-chat syndrome. Your unborn child has a slightly increased risk of being born with the condition if you have a family history of cri-du-chat syndrome. Some symptoms are severe while others are so minor they may go undiagnosed. The cat-like cry, which is the most common symptom, becomes less noticeable over time. Physical features Children born with cri-du-chat are often small at birth. They may also experience respiratory difficulties. The condition is usually diagnosed at birth, based on physical abnormalities and other signs like the typical cry. A chromosome test that uses a special technique called a FISH analysis helps detect small deletions. If you have a family history of cri-du-chat, your doctor may suggest a chromosome analysis or genetic testing while your child is still in the womb. Your doctor can either test a small sample of tissue from outside the sac where your child develops known as or test a sample of amniotic fluid. There is no known way to prevent cri-du-chat syndrome. If you do, you should consider getting a genetic test.

The deleted chromosome 5 is paternal in origin in about 80% of de novo cases. Note x-ray may reveal any problems with the shape of the base of the skull. The body has various checkpoints throughout meiosis that work to correct any mistakes made in the process of generating gametes. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Glad Director, and the A. Each entry has a summary of related medical articles. G-banded karyotype of a carrier is also useful. Cri-du-chat also carries many disabilities and abnormalities. Then work to make the student safe, comfortable, happy, and to assure their learning. The syndrome is met by looking at the combination of symptoms, physical examination by a specialist, and finally by genetic testing. CdCS is usually diagnosed within the first few days of birth, though for some babies this takes longer. The parents of a child with cri du chat syndrome should also have genetic responsible to find out whether one parent has a change in chromosome 5. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.