Crying cat syndrome

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Cri-du-Chat Syndrome or deletion 5p syndrome or 5p minus syndrome Distinctive kitten-like cry in infancy Cri-du-chat syndrome is a genetic disorder caused by partial deletion (loss) of part of human Chromosome 5 (known as 5p-). This chromosome error occurs during fetal development and is not inherited. The estimated incidence of the syndrome in the United States is 1 in 50,000 live births. Cri-du-chat syndrome affects people of all ethnic backgrounds and is slightly more common in females. It was first described by Jérôme Lejeune in 1963.

Symptoms
The syndrome gets its name ("cat's cry") from the characteristic cry of infants born with the disorder. The infant sounds just like a mewing kitten, due to problems with the larynx and nervous system. This cry identifies the syndrome. About 1/3 of children lose the cry by age 2. Other symptoms of cri-du-chat syndrome may include:


 * Feeding problems because of difficulty swallowing and sucking
 * Low birth weight and poor growth
 * Severe cognitive, speech, and motor delays
 * Behavior problems such as hyperactivity, aggression, tantrums, and repetitive movements
 * Unusual facial features which may change over time
 * Diagnosis is based on the distinctive cry and accompanying physical problems'''Genetic testing (FISH) can confirm the diagnosis.

Individuals with cri du chat syndrome are often underweight at birth. The disorder is characterized by distinctive facial features, small head size (microcephaly), low birth weight, weak muscle tone (hypotonia), a round face, epicanthal folds, low set ears, strabismus, Micrognathis (small jaw), facial asymmetry, Hypertelorism (wide spaced eyes), and downward slanting palpebral fissures. Cardiac malformations may occur and affect the vital prognosis. The importance of the whole syndrome seems to vary depending on the amount of lost DNA material.

In terms of development and behaviour, severe mental retardation is typical. Expressive language is an area of weakness, and signing is often used. Hypersensitivity to noise is common. In addition some have autistic traits such as repetitive behaviors and obsessions with certain objects. They also have behavior problems such as aggression, hyperactivity, and often throw tantrums, but they are sometimes happy children, and are sometimes described as "loving" and sociable.

Treatment
No treatment exists for the underlying genetic disorder, so medical care is focused on the symptoms. Chronic medical problems, such as respiratory tract infections, may occur and require treatment. Heart defects may need to be corrected by surgery. The child with cri-du-chat syndrome may require a gastrostomy tube for feeding.

To increase communication skills, early intervention by a speech therapist can help the child learn to use sign language. Behavior modification programs can help families manage the child's behavior problems, often a source of stress for the family.

Genetics
Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5. Approximately 85% of cases results from a sporadic de novo deletion, while about 15% are due to unequal segregation of a parental chromosome translocation. Although the size of the deletion varies, a deletion at region 5p15.3 is responsible for the unique cry and deletion at the critical region of 5p15.2 for the other features. The deletion is of paternal origin in about 80% of cases in which the syndrome is de novo. Genetic counseling and genetic testing may be offered to families with cri du chat syndrome.

Papers

 * Google Scholar