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| DiseaseID |
HGD64 |
| Genetic
Disorder |
Cri_du_chat_syndrome
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| Gene
Name |
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) |
| Description |
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. The cause of this rare chromosomal deletion is unknown.
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| Symptoms |
The symptoms of cri du chat syndrome vary among individuals. The variability of the clinical symptoms and developmental delays may be related to the size of the deletion of the 5p arm. The clinical symptoms of cri du chat syndrome usually include a high-pitched cat-like cry, mental retardation, delayed development, distinctive facial features, small head size (microcephaly), widely-spaced eyes (hypertelorism), low birth weight and weak muscle tone (hypotonia) in infancy. The cat-like cry typically becomes less apparent with time. Most individuals who have cri du chat syndrome have difficulty with language. Half of children learn sufficient verbal skills to communicate. Some individuals learn to use short sentences, while others 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 cri du chat syndrome have a normal life expectancy. Both children and adults with this syndrome are usually friendly and happy, and enjoy social interaction.
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| Causes |
Cri du chat syndrome is rare. It occurs when a piece of information on chromosome 5 is missing. It is likely that multiple genes on chromosome 5 are deleted. One deleted gene, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of this syndrome develop.
Most cases are believed occur during the development of an egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation. |
| Diagnosis |
The diagnosis of cri du chat syndrome is generally made in the hospital at birth. A health care provider may note the clinical symptoms associated with the condition. The cat-like cry is the most prominent clinical feature in newborn children and is usually diagnostic for the cri du chat syndrome. Additionally, analysis of the individual's chromosomes may be performed. The missing portion (deletion) of the short arm of chromosome 5 may be seen on a chromosome analysis. If not, a more detailed type of genetic test called FISH analysis may be needed to reveal the deletion.
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| Treatment |
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. With early and consistent educational intervention, as well as physical and language therapy, children with cri du chat syndrome are capable of reaching their fullest potential and can lead full and meaningful lives. |
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