What is 5p deletion syndrome?

Cri-du-chat (cat’s cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing . Infants with this condition often have a high-pitched cry that sounds like that of a cat.

What are the symptoms of Cri du Chat?

Symptoms of cri du chat syndrome

• 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.

What is the life expectancy of a child with cri-du-chat syndrome?

The survival for children with cri du chat is generally good. Most syndrome related deaths occur within the first year of life. Several children have lived to be over 50 years of age. Genetic counseling is recommended for affected individuals and their families.

Can people with cri du chat syndrome live a normal life?

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.

Why do females get Cri du Chat?

Therefore cri du chat syndrome is said to be caused by deletion of chromosome 5p. Most cases are thought to occur as a result of damage to the chromosome during the development of the egg or sperm.

What does Cri du Chat do to the body?

The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy.

What does the 5th chromosome do?

People normally have two copies of this chromosome. Chromosome 5 spans about 181 million base pairs (the building blocks of DNA) and represents almost 6% of the total DNA in cells. Chromosome 5 is the 5th largest human chromosome, yet has one of the lowest gene densities….

Does Cri du Chat affect life span?

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.

What is the prevalence of Cri du chat syndrome?

Cri du chat syndrome affects females more often than males. The incidence ranges from 1-15,000 to 50,000 live births. Some cases of cri du chat syndrome may go undiagnosed making it difficult to determine the true frequency of this disorder in the general population.

What is Cri du chat syndrome?

Cri du chat syndrome, is a rare genetic disorder due to chromosome deletion on chromosome 5. Its name is a French term (“cat-cry” or ” call of the cat “) referring to the characteristic cat-like cry of affected children. It was first described by Jérôme Lejeune in 1963.

What does Cri du syndrome effect?

Cri du chat syndrome is present from birth and affects growth and development. Infants with this condition often have a high-pitched cat-like cry, small head size, and a characteristic facial appearance. They may have trouble breathing and feeding difficulties. People with this condition typically have intellectual disability, developmental and speech delay, and behavioral issues.

Who discovered Cri du chat syndrome?

Cri Du Chat Syndrome. Jerome Lejeune discovered Cri du Chat Syndrome in 1963. It was named after the cat-like cry emitted from children with the disease. This rare disorder involves part of the short arm of chromosome 5 being deleted.