external image Criduchat.jpg

Emily Graves and Victoria Bonds

Where on Chromosome is Problem?
A complete deletion of chromosome 5 is what causes this.
Most cases of cir-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family so it's hard to predict.

What Is the Problem?

Infants with this condition often have a high-pitched cry that sounds like that of a cat. The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy. Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face. Some children with cri-du-chat syndrome are born with some sort of heart defect and most also have trouble with language. Half of children learn sufficient verbal skills and are able to effectively communicate while others can only produce short sentences and others even express themselves with a few basic words, gestures, or sign language.

Other characteristics may include feeding difficulties, delays in walking, hyperactivity, scoliosis, and significant retardation. A small number of children are born with serious organ defects and other life-threatening medical conditions, although most individuals with cir du chat syndrome have a normal life expectancy; they're just expected to live a more complicated life.
Both children and adults with this syndrome are usually friendly, happy, and enjoy social interaction.

What is the Prognosis?

The majority of cases have good survival expectations (in an Italian study, the oldest patient was 61 years old) although about 10% of cases die in their first year.
Improvements in supporting these children, both educationally and in terms of rehabilitation, have allowed better psychomotor development, social adaption and improved autonomy. Although many cir du chat syndrome children have a range of severe developmental delays, they achieve many social skills in childhood and continue to learn, with older children usually able to walk, communicate with words or through gestures and are able to be independent in a range of self-care skills.

Cite Your Sources

https://www.genome.gov/19517558#al-1
http://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome
http://www.patient.co.uk/doctor/cri-du-chat-syndrome-pro