Definition

What is Cri du chat syndrome?

Cri du chat syndrome, also known as Chromosome 5p deletion syndrome or 5p- (5p minus) syndrome or cat cry syndrome, is a genetic condition that is caused by the deletion of genetic material on the small arm (the p arm) of chromosome 5. Infants with this condition often have a high-pitched cry that sounds like that of a cat.

How common is Cri du chat syndrome?

Cri du chat syndrome is a rare disorder. Please discuss with your doctor for further information.

 

Symptoms

What are the symptoms of Cri du chat syndrome?

The common symptoms of Cri du chat syndrome are:

  • Cat cry
  • Epicanthus
  • High pitched voice
  • Intellectual disability, severe
  • Low-set, posteriorly rotated ears
  • Microcephaly
  • Microretrognathia
  • Muscular hypotonia
  • Round face
  • Severe global developmental delay
  • Wide nasal bridge
  • Downslanted palpebral fissures
  • High palate
  • Hypertelorism
  • Intrauterine growth retardation
  • Scoliosis
  • Short neck
  • Short stature
  • Small hand
  • Abnormality of bone mineral density
  • Abnormality of cardiovascular system morphology
  • Finger syndactyly
  • Inguinal hernia
  • Joint hyperflexibility
  • Preauricular skin tag
  • Recurrent fractures

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or has any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Cri du chat syndrome?

Cri du chat syndrome is caused by a missing of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.

Most cases of Cri du chat syndrome are not inherited. About 10 percent of people with Cri du chat syndrome inherit the chromosome abnormality from an unaffected parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Most affected individuals do not have a history of the disorder in their family.

Risk factors

What increases my risk for Cri du chat syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Cri du chat syndrome diagnosed?

To diagnose Cri du chat syndrome, the treating physician will perform a physical examination which will reveal the following:

  • Presence of palpable inguinal hernia
  • Decreased muscle tone
  • Epicanthal folds
  • Problems folding of the outer part of the ears.

Apart from this, genetic tests will reveal the missing chromosome 5 thus confirming the diagnosis.

How is Cri du chat syndrome treated?

There is no definitive treatment for Cri du chat syndrome but treatments are aimed at controlling the symptoms. Parents of the affected child need genetic counseling and testing in order to determine changes in chromosome 5. The most significant disability due to Cri du chat syndrome is intellectual impairment but more than half of children affected with this disease learn enough verbal skills to communicate effectively over time. The cry resembling that of a cat also clears up with time. The complications of Cri du chat syndrome is dependent on the extent of impairment and physical disabilities and may affect a person’s ability to care for self.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Cri du chat syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 29, 2018 | Last Modified: January 29, 2018

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