What are complications of Cri du Chat?
Abnormal side-to-side curvature of the spine (scoliosis) is a frequent complication. Affected children also have a higher risk of ear infections and hearing loss. Approximately 15-20 percent of affected infants have congenital heart defects.
What genes are deleted in Cri du Chat?
Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-.
Can someone with Cri du Chat have kids?
Previous investigators have noted the lack of information about the reproductive fitness of patients with this disorder. This report demonstrates that females with cri du chat syndrome are fertile, can gestate and likewise deliver affected offspring, which has significant management and counseling implications.
How is Cri du Chat caused?
Cri du chat syndrome is a rare genetic disorder caused by a missing section on a particular chromosome known as Chromosome 5. Sometimes, material from another chromosome is missing as well. Around one in every 50,000 or so babies is diagnosed with this disorder.
How do you treat a baby with cri-du-chat syndrome?
Treatment for cri du chat syndrome Treatment aims to stimulate the child and help them to reach their full potential and can include: physiotherapy to improve poor muscle tone. speech therapy. communication alternatives, such as sign language, since speech is usually delayed, often severely.
How often do people with Cri du chat syndrome die?
Learning difficulties and speech and language problems are common. However, most people with cri du chat syndrome survive well into adulthood. About 1 in 10 babies born with cri du chat syndrome are severely affected and die within the first year of life. Intellectual disability is common.
What kind of genetic disorder is Cri du Chat?
Cri du chat syndrome – also known as 5p- syndrome and cat cry syndrome – is a rare genetic condition that is caused by the deletion (a missing piece) of genetic material on the small arm (the p arm) of chromosome 5.
Why does Cri du Chat sound like a cat?
Research into Cri du Chat syndrome has shown that the larger the size of the chromosomal deletion, the more pronounced the physical characteristics are among individuals with Cri du Chat syndrome. Infants with Cri-du-chat syndrome often have a high-pitched cry that sounds like that of a cat.
Is there a cure for Cri du Chat?
No specific treatment is available for this syndrome. Children born with this genetic condition will most likely require ongoing support from a team made up of the parents, therapists, and medical and educational professionals to help the child achieve his or her maximum potential.