Cri-Du-Chat Syndrome “Cry Of The Cat”

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. 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

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.

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.

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

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

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.

Children With Cri-Du-Chat

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.

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