1 / 12

Cri-Du-Chat Syndrome

“Cry Of The Cat”. Cri-Du-Chat Syndrome. Type of Genetic disorder. Cri-Du-Chat is a disorder caused by a deletion in the chromosome 5. Chromosomal Graphic. Symptoms. As an infant the child’s cry is described as sounding like a cat. Low birth weight and slow growth Lower ears.

Download Presentation

Cri-Du-Chat Syndrome

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. “Cry Of The Cat” Cri-Du-Chat Syndrome

  2. Type of Genetic disorder • Cri-Du-Chat is a disorder caused by a deletion in the chromosome 5.

  3. Chromosomal Graphic

  4. Symptoms • As an infant the child’s cry is described as sounding like a cat. • Low birth weight and slow growth • Lower ears. • Partial webbing or fusing of fingers or toes • Single line in the palm of the hand • Slow or incomplete development of motor skills • Small head and jaw • Mental Retardation

  5. Diagnosis • Cri-Du-Chat is diagnosed by the obvious symptom of the cat like cry, most likely after birth in the hospital. The shortened chromosome 5 may also be seen on a chromosomal analysis. As well as by noticing more than one physical symptom.

  6. Prognosis • Depending on the level of seriousness in the diagnosis, most people afflicted may have an average life with a normal life span. Many may have a more severe case mental retardation and will not be able to function in society or care for themselves.

  7. Treatment • No known treatment has been developed for this disorder, although some organizations are now studying the disorder, prevention and treatment.

  8. Current Research • Researchers are studying the genes to find exactly which parts of chromosome 5, that are deleted, are connected to a symptom.

  9. Genetic Counseling • Genetic Counseling is usually pressed upon two parents who have a history of the disease as they carry a dysfunctional chromosome 5 as well.

  10. Children With Cri-Du-Chat

  11. Story • Brooke born at 5 Pounds 4 ¾ Ounces, was diagnosed within a week of birth. She cannot walk as of yet but is very social and can use her Gait Trainer to walk. She’s already overcome many difficulties of this disease and can express herself and form sentences, something many children at her age are barely beginning to develop the skills to.

  12. Credits • http://www.fivepminus.org/about.htm • http://www.genome.gov/10004414 • http://health.nytimes.com/health/guides/disease/cri-du-chat-syndrome/overview.html • http://www.nlm.nih.gov/medlineplus/ency/article/001593.htm • http://www.criduchat.asn.au/criduchat/what.htm

More Related