Cri du Chat Syndrome

Cri du chat, pronounced [kree doo shah], syndrome is French for "cry of the cat." 

French physician Jerome Lejeune discovered Cri du chat syndrome in 1959. Cri du chat became the name of this particular condition because typically infants have a high-pitched, "cat-like" cry. This syndrome occurs when there is a loss of genes on the short arm (or "p" portion) of the 5th chromosome, which is why it's also called 5p-. 

Many people know Down syndrome is caused by an extra chromosome, whereas Cri du chat syndrome is caused by missing, or deleted, genetic material on the fifth chromosome. Cri du chat syndrome is one of the most common known deletion syndromes, even though it only affects about 1 in 35,000 to 50,000 live births per year. 

Common characteristics of Cri du chat syndrome include:

  • round face

  • wide-spread eyes (hypertelorism)

  • an extra fold of skin in the corners of the eyes (epicanthal folds)

  • flattened and widened nasal bridge

  • low set ears

  • single crease (simian crease) on palms

All from a small part of genes missing from chromosome five. 

Individuals with Cri du chat syndrome tend to have cognitive, gross/fine motor delays, speech/language delays, feeding difficulties, and a host of other medical complications affecting their neurological, cardiac, GI, kidney, and urological systems, depending on the severity of the case. 

Some experts say the severity of the symptoms can be linked to where the break occurred along the short arm of the fifth chromosome. However, anecdotal stories often tell us something different. Many kids thought to be on the severe end of the spectrum are functioning beyond what was expected of them - walking, talking, some even living independently, and/or with jobs.

 

Regardless of where a person falls on the spectrum of Cri du chat syndrome, a couple of things tend to be commonalities - they understand much more than they can express and they enjoy social contact with others. 

There is a way to bond with people who have Cri du chat syndrome; you don't have to fear a lack of connection with them. It just takes time.

 

Remember there are many early intervention and cutting-edge therapies available today. These tools provide help for the challenges these children face. But even when a challenge isn't overcome, know this, no one can tell you who your child will become. Their personality, talents, and God-given gifts make them every much as unique as their syndrome.

 

Additional information about Cri du chat syndrome can be found on my website:

Cri du chat syndrome blog posts on All Things Beautiful

And in these sources:

5p- Society

Cri du chat Research Foundation

The Cri du chat Syndrome Children's Association

The Ellis Family Video

The best information, I believe, however, can be found in the minds and hearts of other parents. Parents of children with Cri du chat syndrome, or another special needs diagnosis. Another parent who is both hopeful and realistic in light of the disability.

In the first year of discovering Nathan's diagnosis, two different parents told me things that will remain in my heart waiting to be revealed. One said, "There is something special about having your child always love you as a child." The other, "Your child will open up doors not accessible to you before."

I have experienced a glimpse of what they were saying. There truly is beauty that is possible through having and raising a child with special needs. 

Kathy

Photo Credit: Markum Photography

 

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