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Cri Du Chat Syndrome
Cri Du Chat Syndrome
• The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth
weight, and weak muscle tone (hypotonia) in infancy.
• Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw,
and a rounded face. Some children with cri-du-chat syndrome are born with a heart defect.
Cri-du-chat syndrome is caused by a deletion of the end of the short (p) arm of
chromosome 5. The size of the deletion varies among affected individuals.
● Most cases of cri-du-chat syndrome are not inherited. The deletion occurs
most often as a random event during the formation of reproductive cells or in
early fetal development.
Cri du chat syndrome is often diagnosed at birth. The Children with cri du chat syndrome commonly
symptoms in a newborn baby can include: experience health problems including:
• Most individuals with Cri du Chat syndrome do not have problems with vision
and hearing, although some individuals may be hypersensitive to sound.
• Many children with Cri du Chat syndrome are attached to a favorite object.
Cri du chat syndrome is a rare genetic disorder caused by missing
pieces on a particular chromosome.
It is not the result of anything the parents have done or failed to do.
Around a third as many girls as boys are affected. Other names for this
condition include cat-cry syndrome, 5P minus syndrome and Le Jeune’s
syndrome.
https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/cri-du-chat-syndrome
https://www.findresources.co.uk/the-syndromes/cri-du-chat
https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/