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Cat Cry Syndrome (Cri du chat)

Cat Cry Syndrome (Cri du chat). By: Madalyn Oertling. What is it?. A disorder caused by the loss of part of the short (p) arm from chromosome 5. Most die in early child hood, some survive into adulthood and exhibit and IQ below 20.

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Cat Cry Syndrome (Cri du chat)

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  1. Cat Cry Syndrome(Cri du chat) By: Madalyn Oertling

  2. What is it? • A disorder caused by the loss of part of the short (p) arm from chromosome 5. • Most die in early child hood, some survive into adulthood and exhibit and IQ below 20. • One of the most common deletion syndromes with an incident varying between 1 in 20,000 to 1 in 50,000 births.

  3. Discovery • The syndrome was discovered in France in 1963 by a team headed by the late Jerome Lejeune. The peculiar cry of affected infants sounded to Lejeune like the meowing of a Parisian cat.

  4. Medical Problems Heart defects Cleft palate Kidney abnormalities Minor skeletal problems including hip dislocation and deformities of the feet Scoliosis develops in some children Hernias (inguinal and abdominal) are sometimes present at birth Bowel abnormalities Swallowing and sucking problems are often present in the newborn and swallowing problems may persist

  5. Characteristics • Characteristic high pitched cry at birth Low birth weight Poor muscle tone Developmental delay Small head Round "moon" face Small thin build and short stature • Low set earsTypical facial features - small chin, long nose • Older children often have protruding teeth as their heads and jaws are small, but the teeth are normal size. Some children also have internal abnormalities such as heart defects or absent kidneys, some also develop curvature of the spine. • Delay in mobility, and toilet training. • Wide-set eyes

  6. Concerns • I think that this syndrome is very important to not just look over. Many of children in the world have the syndrome and are going to have to deal with it their whole lives. But in the long run the children are very happy and they are very loving. • These children love life and and they show it . • There are no treatments for this syndrome which is a shame, but these kids are fighting and they are living and that’s all that matters.

  7. kids just like you

  8. Sources • http://www.wrongdiagnosis.com • http://www.iris-birthdefects.org • http://www.medterms.com • http://www.healthatoz.com • http://www.umm.edu

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