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Cri du Chat Syndrome is a rare, complex genetic disorder. Characterized by the "cat cry" it causes, it's implications reach far beyond the cry alone.

Cri du chat syndrome is a just one of many rare genetic disorders that can occur as the result of abnormal development of the egg or sperm. The disease can also happen in a small number of cases when one parent passes on a different form of chromosome to the child. It involves a missing short arm of the number five chromosome. The term “cri du chat” actually means “cry of the cat” in French and infants born with this disorder will cry in a high pitched noise that is likened to a cat meowing.

First detected by geneticist Jerome Lejeune, the disease was identified in 1963. Incidentally, he is the same individual who uncovered the genetic abnormality responsible for causing Down syndrome.

What Are The Symptoms?

In addition to a distinctive cat-like cry, other symptoms that occur with Cri du chat syndrome include:

  • Serious cognitive, motor and speech impairments and/or delays
  • Feeding issues tied to swallowing and sucking problems
  • Low birth weight and delayed or poor growth
  • Wide set eyes
  • Behavioral issues such as ADHD, aggression, temper tantrums, and repetitious movements
  • Smaller head and jawline
  • Unusual facial features that change with time
Other common symptoms include growth retardation, downward slanting palpebral fissures, downward turned mouth, shorter fingers and low set ears. It has also been witnessed those with the condition have difficulties in communication. However, the disease does not cause infertility.

Less frequently seen with cri du chat are cleft palate and lips, intestinal malrotation, inguinal hernia, hip dislocation, horseshoe kidneys, and hyperextensible joints. In late childhood and adolescence the child can have greater significance in intellectual disabilities, facial features may coarsen, severe malocclusion and curvature of the spine could also happen.

As females with cri du chat syndrome reach puberty there can be development of secondary sex characteristics and menstruation can occur at the usual time. The genital tract in females is usually normal, expect for some having a heart-shaped uterus. Males can have smaller testicles, but it is not thought to effect spermatogenesis.

How Is Cri Du Chat Syndrome Diagnosed?

Cri du chat is diagnosed through a series of different tests. A doctor might perform a physical examination and it could show an inguinal hernia, diastasis recti or a separation in the muscles of the stomach, low muscle tone, an extra fold of skin over the inner corner of the eyes and problems in the folds of the outer ear. 

If the disease is suspected, a physician may order genetic tests which can identify a missing portion of chromosome number five. An X-ray of the skull may show any problems in the shape of the base of the skull.

Diagnosis can also be based upon a baby having a distinctive cry and certain physical issues. The symptoms are quite easy to witness in a baby and typically an affected child can be diagnosed by a doctor or nurse. If the diagnosis is positive, it can be worthwhile for the parents to seek genetic counseling and testing to get more information about the disease.

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