Cri du Chat Syndrome

by : Grace Flanagan

Overview

  • Cri Du chat Syndrome happens when a piece of chromosomal material is missing from chromosome five
  • people with the syndrome have unusual facial features, poor muscle tone, small head size, and mental retardation
  • Infants make a cat like cry when they have this disorder

How it's inherited

  • everyone has two copies of chromosome five
  • People with Cri du Chat are missing a piece from chromosome five
  • deletion of chromosome five can be inherited through generations, and also appears at random
  • The syndrome appears in one of 20,000 to 50,000 kids born

Signs and Symptoms

  • abnormal larynx causes the cat like cry made by infants
  • aschildren get older, the cry disappears
  • in older patients, it's harder to notice the syndrome
  • people with the syndrome also have strange facial features
  • microcephaly, (small head size), and hypotonia, (poor muscle tone) are common
  • 30% of infants with Cri Du chat have a congenital heart defect
  • mental retardation is also present, and varies between patients

Current Research

  • geneticists are finding the exact location on chromosome five that cause the symptoms
  • one gene, CTNND2, causes the loss of intellectual ability
  • missing genes/genetic combinations tells us about other Cri du Chat symptoms
  • knowing this, it can help specialists predict how the syndrome will affect a child's development
  • research is also being done to find how behavior is affected, and more treatment and therapies are being researched

Treatment

  • there is no cure
  • treatment: supportive care and development therapy
  • behavioral modification helps to control several behavioral problems that emerge later in life
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