Gourt > Health > Conditions and Diseases > Neurological Disorders > Chromosomal > Cri du Chat Syndrome
Cri du chat syndrome, also called deletion 5p syndrome, or 5p minus, is a rare genetic disorder due to a missing portion of chromosome 5. It was first described by Jérôme Lejeune in 1963. The condition affects an estimated 1 in 20,000 to 50,000 live births. The disorder is found in people of all ethnic backgrounds and is slightly more common in females.
Signs and symptoms
Its name, meaning cry of the cat in French, is from the distinctive mewing sound made by infants with the disorder. As babies, patients tend to be squirmy with a mewing cry, ascribed to abnormal laryngeal development. The cry becomes less distinctive with age. 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, facial asymmetry 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. Also, some have autistic traits such as repetitive behaviors and obsessions with certain objects. Apparently, many enjoy pulling hair. They are often happy children, and are described as "loving" and sociable.
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Genetic Disorders
Rare Disorders :: Conditions and Diseases
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Cri-du-chat Support Group of Australia - Comprehensive information on this rare genetic disorder, including its characteristics and genetic basis.
NORD: Cri du Chat Syndrome - Offers the synonyms, a general discussion and further resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]
The CaF Directory - A description of Cri du Chat Syndrome with details on the inheritance pattern and pre-natal diagnosis.
Meta Description: [ Contact a Family is a UK charity for families with disabled children. We offer information on specific conditions and rare disorders. ]
The Cri du Chat Syndrome Support Group - Information about this disease as well as a message board and a chat room.
Meta Description: [ The Cri du Chat Syndrome Support Group, The Cri du Chat Syndrome Support Group ]
Vincent's Home Page - Chronicling one child's journey through the medical and developmental challenges presented by Cri du Chat Syndrome.
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