Cri Du Chat Syndrome Lindsey Kim

Cri Du Chat is the loss or deletion of a significant portion of the genetic material from the short arm of one of the pair of number five chromosomes.

CDC is a relatively rare genetic condition where it is estimated that 1:25,000 to 1:50,000 births are being diagnosed with CDC.

History In 1963, Le Jeune et al described a syndrome consisting of multiple congenital anomalies, mental retardation, microcephaly, abnormal face, and a mewing cry in infants with a deletion of a B group chromosome (Bp-), later identified as 5p-.1 (basically CDC.)

Most cases of cri du chat syndrome are not inherited or passed down among families. Just a random deletion occurs.

How it is diagnosed… Doctors most often identify cri-du-chat by the infant's cat-like cry. Other signs are microcephaly, poor muscle tone, and mental retardation. It is also possible to test for cri-du-chat (and other chromosomal abnormalitites) while the baby is still in its mother's womb. They can either test a tiny sample of tissue from outside the sac where the baby develops (chorionic villus sampling (CVS)), or they can test a sample of the amniotic fluid (amniocentesis).

"Cri du Chat" is French for "cat's cry" http://www.criduchat.asn.au/criduchat/Images/babycryb.wav The most distinctive characteristic about CDC is the distinctive high-pitched, monotone, cat-like cry.

Symptoms: High palate Low broad nasal bridge Folds of skin over the upper eyelid (epicanthic folds) Distinctive palmar creases (creases on the palms of the hands) Widely spaced eyes (hypertelorism) ROUNDED FACE Low birth weight and slow growth Downward slant to the eyes Partial webbing or fusing of fingers or toes Low set ears Small receding chin (micrognathia) Small head (microcephaly) Slow or incomplete development of motor skills Mental Retardation

Treatments Although there is no real treatment for cri-du-chat syndrome, children with the disorder can go through therapy to improve their language skills, motor skills, and to help them develop as normally as possible.

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