Sunday, June 25, 2017

Cri du Chat Syndrome

CriduChat

Cri du Chat syndrome (CdCS) is a genetic condition caused by the deletion of genetic material on the small arm (the “p” arm) of chromosome 5. Alternative names include 5p- syndrome, 5p minus syndrome, and 5p deletion syndrome. It is one of the most common syndromes caused by chromosomal deletion. CdCS is a rare syndrome with an estimated incidence rate of one in 35,000. Named in 1963 by French geneticist Jerome Lejeune, “Cri du Chat” is French for “cry of the cat” and is so named because of the distinctive cry in infancy which resembles the mewing of a cat.

Characteristics

  • Wide-set down-slanting eyes
  • Small head circumference
  • Weak muscle tone
  • Significant developmental delays in language and motor skills
  • Mental retardation
  • Restlessness, distractibility
  • Constipation
  • Seizures
  • Malocclusions in the mouth (overcrowding of teeth)
  • Scoliosis
  • Hernias
  • Gastroesophageal reflux
  • Cleft lip and/or palate
  • Respiratory complications; susceptible to pneumonia


Diagnosis & Treatment

The most prominent clinical feature is the cat-like cry. An audio example of a newborn with CdCS is located at: YouTube. As children with CdCS mature, the cry is less distinctive. A chromosome analysis or a genetic test such as a FISH analysis can provide a definitive diagnosis.

Most cases of CdCS are not inherited. It is usually a random event which occurs during the formation of reproductive cells. Parents who already have one child with CdCS are usually encouraged to speak with a genetics counselor to address any concerns they may have regarding future children.

When CdCS was first diagnosed 50 years ago, parents were encouraged to institutionalize their children and forget about them. As a result, the prognosis for those individuals was poor. Studies from the past 15 years have shown that when children are provided with early intervention programs, regular medical care, and a positive home environment, that the prognosis is much more favorable. While there are many medical and health problems associated with this disorder, the majority of individuals tend to be relatively healthy. The life expectancy for individuals with this syndrome has been increasing and many can be expected to survive into adulthood. While there is no treatment for CdCS, there is a variety of support and therapy options which can help individuals lead full and meaningful lives. As is the case with many developmental disabilities, early intervention is the key, especially in regard to communication and language therapy.

To learn more about this rare disorder, check out the Five P Minus Society or read one of many blogs on the subject, such as: http://elastamom.com.

 

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