Cri du chat Syndrome
Cri du chat syndrome is an uncommon genetic condition that is caused by missing genetic material on chromosome 5. Specifically a part on the small arm (p) of chromosome 5 is absent. The disorder occurs in 1 in 20,000 to 50,000 live births according to the US National Library of Medicine. What causes this to happen is currently unknown. Cri du chat syndrome was first described in 1963 by French geneticist Jérôme Lejeune. He noticed that several of his patients exhibited a mewing cry like that of a cat. He described it as a syndrome consisting of multiple congenital anomalies. These anomalies being mental retardation, microcephaly, abnormal facial features and a cat like mewing cry in infants which lead to its name. The cry is caused by a problem in the larynx and the nervous …show more content…
The symptoms of the disease need to be managed. Children affected by this syndrome will need support from many medical professionals. Young kids will need support from Early Intervention for the speech and physical abnormalities. Severe speech problems can be helped through the use of sign language or gestures. Physical therapy helps to improve the poor muscle tone. Occupational therapy can help to improve fine motor skills. Some symptoms will stay consistent throughout a person's life while others will improve with therapy. The mewing cry which occurs in infants tends to fade over time. Due to the lack of funding, no significant progress has been made in the research of the disease. This genetic syndrome is not as well known or as common as other genetic diseases which is why there has not been much research. There is no hope for a cure now or in the immediate future. The hope is that with more research, advancements can be made in the treatment of the disease which would improve the quality of life of affected
Cri du chat syndrome is an uncommon genetic condition that is caused by missing genetic material on chromosome 5. Specifically a part on the small arm (p) of chromosome 5 is absent. The disorder occurs in 1 in 20,000 to 50,000 live births according to the US National Library of Medicine. What causes this to happen is currently unknown. Cri du chat syndrome was first described in 1963 by French geneticist Jérôme Lejeune. He noticed that several of his patients exhibited a mewing cry like that of a cat. He described it as a syndrome consisting of multiple congenital anomalies. These anomalies being mental retardation, microcephaly, abnormal facial features and a cat like mewing cry in infants which lead to its name. The cry is caused by a problem in the larynx and the nervous …show more content…
The symptoms of the disease need to be managed. Children affected by this syndrome will need support from many medical professionals. Young kids will need support from Early Intervention for the speech and physical abnormalities. Severe speech problems can be helped through the use of sign language or gestures. Physical therapy helps to improve the poor muscle tone. Occupational therapy can help to improve fine motor skills. Some symptoms will stay consistent throughout a person's life while others will improve with therapy. The mewing cry which occurs in infants tends to fade over time. Due to the lack of funding, no significant progress has been made in the research of the disease. This genetic syndrome is not as well known or as common as other genetic diseases which is why there has not been much research. There is no hope for a cure now or in the immediate future. The hope is that with more research, advancements can be made in the treatment of the disease which would improve the quality of life of affected