Cri- Du -Chat Syndrome
Genetic Disorders Project
The Cri-du-Chat syndrome is a genetic disorder that's categorized as a chromosomal abnormality. This disorder was discovered in 1963 by a geneticist named Jerome Lejeune.
The definition of Cri du Chat is that it's a rare genetic disorder due to the deletion of chromosome 5. Also known as the chromosome 5p deletion syndrome. Its french term means "call of the cat" , referring to the characteristic of the cat-like cry of any affected children. This disorders life impact refers to how a small number of children are born with serious organ defects and other life-threatening medical conditions, although most individuals with cri du chat syndrome have a normal life expectancy.
Cri-du-Chat symptoms includes a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features such as small head size, widely-spaced eyes, low birth weight and weak muscle tone in infancy. Cat-like cry typically becomes less apparent with time. Most individuals struggle with language, feeding difficulties , delays in walking, hyperactivity, scoliosis. Some children are also born with organ defects or other life-threatening medical conditions.
The Cri-du-Chat syndrome isn't inherited , it's caused by deletion randomly during the formation of reproductive cells or in early fetal development. Its's neither dominant or recessive. Its one of the more common syndromes caused by chromosomal deletion, the chromosome is chromosome 5. Cri-du-chat doesn't occur in any specific population or by any environmental factors either.
Using genetic testing to determine if you have this disorder is one type of diagnostic testing. Another type to use is Cytogenetics Testing and also Molecular Genetics Test. These tests are preformed by analyzing the DNA sequence to test and evaluate if the chromosome 5 is missing , resulting the patient to be diagnosed with the Cri-du-Chat syndrome.
Unfortunately there's no absolute cure for the Cri - du - Chat syndrome, but treatment aims to stimulate the child and help them reach their full potential.Recommended treatments are physio therapy to improve poor muscle tone. Also to practice any speech therapy the child might require. Some organizations are the National Organization for Rare Disorders ( NORD ) , Cri Du Chat Syndrome Support Group UK, and also the University of Kansas Medical Center.