An Overview of Cri du Chat Syndrome

Published by: Verywell Health
Written by: Abby Norman

Cri du Chat Syndrome (French for “cat cry”) is a rare chromosomal disorder caused by missing or deleted portions of chromosome 5. Infants who are born with the syndrome often have a high-pitched cry that sounds like a cat, hence the condition’s name. Since the condition occurs due to missing portions of the short arm (p) of chromosome 5, Cri du Chat is also known as 5p- (5p minus) syndrome.

Close-up of a crying baby.
Dimitri Otis/Getty Images

Symptoms

The key physical characteristics and symptoms of Cri du Chat syndrome are caused by missing or deleted genes in the small arm (p) of chromosome 5. Researchers suspect that the specific set of symptoms associated with Cri du Chat, and the severity of those symptoms, is linked to the size and location of the deleted or missing portion of the chromosome.

Like other chromosomal disorders, the symptoms and severity of the condition vary from person to person. However, there are a few key manifestations of the condition that are noticeable from birth. These hallmark features include:

  • Low birth weight
  • Poor sucking reflex
  • Slow growth or failure to thrive
  • A high-pitched, mewling cry that sounds like a cat
  • Low muscle tone

While they may not have all of the features, many newborns with Cri du Chat have distinct physical characteristics, including:

  • A small head (microcephaly) and jaw
  • An abnormally round face
  • Malocclusion of the teeth
  • Wide-set, downwardly slanted eyes
  • Extra skin folds around the eyes
  • Low-set ears
  • “Webbing” of fingers and toes (syndactyly)
  • Cleft lip or cleft palate

As children with the condition grow up, they may begin to show and experience a spectrum of symptoms related to Cri du Chat, as well as other disorders commonly found in people diagnosed with the condition, including:

  • Motor, cognitive, and speech delays
  • Moderate to severe intellectual disability
  • Psychomotor disability
  • Seizures
  • Autism-like behaviors, such as hand flapping, rocking, and noise sensitivity
  • Scoliosis
  • Congenital heart defects (around 15–20 percent of patients)
  • Hernias
  • Behavioral issues such as tantrums and poor attention/impulse control
  • Walking with a slow, guarded gait or the need for mobility aids, including wheelchairs
  • Self-destructive behaviors like head banging and skin picking
  • Recurrent infections (particularly respiratory, ear, and gastrointestinal)
  • Nearsightedness
  • Constipation
  • Kidney or urinary abnormalities
  • Premature graying of hair
  • Trouble sleeping
  • Toilet training issues

Causes

Cri du Chat syndrome was first described in 1963 by a French pediatrician named Jérôme Lejeune. Lejeune is most well-known for discovering the genetic basis of trisomy 21 (Down syndrome). Click here to read the rest of the story

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