Cri Du Chat Syndrome is a rare chromosomal disorder that was discovered 50 year ago by a French doctor. The issues that can cause the syndrome occur before birth, and often, as the sperm and egg themselves are formed. There is no cure for this condition.

This is a video to give you an overview of Cri Du Chat Syndrome.

What Is Cri Du Chat Syndrome?

Cri Du Chat Syndrome is a chromosomal disorder where parts of the chromosome 5 are missing. A baby affected with this disorder has a high-pitched cry that can sound like a cat. This is how the syndrome got its name. Because the cry often disappears as the child nears the age of two, it is rare that children are diagnosed with Cri Du Chat after that age.

What Are the Signs of Cri Du Chat Syndrome?

Typical Signs in Infancy

Babies with Cri Du Chat Syndrome have a low birth weight and do not grow as fast as other children. They often have a high-pitched cry that usually disappears by the time they are two. Feeding problems, such as dysphagia, poor sucking abilities, reflux and muscle hypotonia, are also possible signs of Cri Du Chat.

Less Typical Signs

Some babies with this disorder have a downward slant to their eyes. They could have low-set ears or skin tags in front of their ears. Microcephaly is a distinctive facial feature with Cri Du Chat. The fingers or toes of a child with this disorder may have slight webbing. Heart problems are also possible signs as is a malrotation of the gut. The external parts of the ear may be folded in an odd way.

Emergent Signs when Growing Up

As the child grows, other symptoms may occur such as small hands and feet and a lax expression on the face. Scoliosis is also a possible problem. Developmental delays or possible severe retardation can occur with Cri Du Chat Syndrome. Their hair may turn gray early.

Behavioral Signs

Most of the time, children with Cri Du Chat Syndrome are easy-going, with a gentle nature. At times, though, behavioral problems can occur with the disorder. About half the children will experience hyperactivity. Others will become aggressive and have temper tantrums. Self-injurious behavior is also possible. They can become obsessed with certain objects and repeat the same movements over and over again. Sound hypersensitivity is a possibility and they may be clumsy.

What Causes Cri Du Chat Syndrome?

While it is possible for a child to inherit this disorder from a parent who also has it, the most common cause is a random chromosomal break during the formation of the sperm or egg. It is highly unlikely that the parent would ever have another child with Cri Du Chat Syndrome.

How Common Is Cri Du Chat Syndrome?

• Females have a slightly higher rate of incidence than males at a ratio of about 4 to 3.
• Of those with severe learning difficulties, between 0.15% and 1% have this disorder.
• 1 child in 15,000 – 50,000 will be diagnosed with this disorder.
• De novo mutations appear to be the cause of about 80% of the cases, while having a parent with a balanced rearrangement accounts for another 15%. Rare cytogenetic problems cause the remaining cases.

Is Cri Du Chat Syndrome Inherited?

While Cri Du Chat Syndrome is not inherited, a parent with a chromosomal rearrangement can pass this onto their children in about 10% of the cases. The parent may not be affected, but the rearrangement becomes unbalanced when it is passed on and cause health issues and other birth defects. Usually, the deletion of the chromosome that causes Cri Du Chat Syndrome occurs during the formation of the egg or sperm. It can also happen early in fetal development.

Can Cri Du Chat Syndrome Be Cured?

Unfortunately, there is no cure for Cri Du Chat Syndrome. But there are treatments to help children with such disorder to get their full potential, including:

• Physical therapy, which can improve the poor muscle
• Speech therapy, which can stimulate the language ability
• Communication alternatives like sign language, which can be used to replace the delayed communication development
• Occupational therapy, which can help children learn coping strategies and get new skills.