Tuesday, March 8, 2011

SYMPTOMS & SIGNS

  • * Feeding problems because of difficulty swallowing and sucking.
  • * Low birth weight and poor growth.
  • * Severe cognitive, speech, and motor delays.
  • * Behavioral problems(hyperactivity, aggression, tantrums, and repetitive movements).
  • * Unusual facial features.
  • * Excessive drooling and constipation.
  • *Small Head Size
  • *Mental Disabilites
  • * 30% of infants with Cri Du Chat have heart defects. 
  • *Affected females reach puberty at usual time, as well as males. Both sexes are able to reproduce. 
Chromosome analysis provides the diagnosis of Cri Du Chat syndrome and can be performed from a blood test.
The Syndrome can also be detected before birth if the expecting mother goes through amniocentesis testing or chorionic villus sampling. This is only recommended if the Parents are known to have chromosome rearrangements or they already have a child with Cri Du Chat.
Individuals with cri du chat have a 10% mortality rate due to the problems present when an Infant with the syndrome is born, such as heart defects.

Those affected by Cri Du Chat have very distinctive facial features such as a small head, widely set eyes, small chin, and a small bridge of the nose.

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