Cri du chat, pronounced [kree doo shah], syndrome is French for “cry of the cat.” The syndrome is typically diagnosed in infants who characteristically have a high-pitched, “cat-like” cry. Other common characteristics include: round face, wide-spread eyes (hypertelorism), extra fold of skin in the corners of the eyes (epicanthal folds), a flattened and widened nasal bridge, low set ears, and a single crease (simian crease) on the palms of the hands. These individuals tend to have cognitive, gross and fine motor delays. Speech and language delays are also typically one of the main characteristics of the syndrome. Although children with Cri du chat syndrome are able to understand much more than they can express.
In 1959, the French physician Jerome Lejeune discovered that an extra copy of chromosome 21 as the cause of Down Syndrome. The new karyotype techniques of the 1950s let Lejeune to also identifying Cri du chat syndrome as the absence of genetic material on the 5th chromosome in 1963.
Cri du chat syndrome occurs when there is a loss of genes on the short arm (or “p” portion) of the 5th chromosome (that’s why it’s also called 5p-). It is one of the most common known deletion syndromes although it only affects about 1 in 35,000 to 50,000 live births. The break of the 5th chromosome most commonly happens spontaneously at conception when part of the genetic material breaks off. It can occur because of one break (a terminal deletion) or two breaks (an interstitial deletion). In only 10 to 15 percent of cases one parent is a carrier of the abnormality known as a translocation. In these cases, it can be present in several generations of the same family without ever having any symptoms or being identified.
Some experts will say that the severity of the symptoms present in each case can be linked to where the break occurred along the short arm of the 5th chromosome. However, anecdotal stories often tell you something completely different. Some kids thought to be on the severe end of the spectrum are functioning beyond what was ever expected of them – walking, communicating, some even living independently and working. And with the early intervention therapies available today, there is so much more help, and hope, available for the challenges these children face.
Additional information about Cri du chat syndrome can be found in these sources:
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, who also desire to be both hopeful and realistic in light of the disability.
In the first year of us 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, and the beauty that is possible through having and raising a special needs child.