Cri du chat (patient information)

Jump to navigation Jump to search

For the WikiDoc page for this topic, click here

WikiDoc Resources for Cri du chat (patient information)

Articles

Most recent articles on Cri du chat (patient information)

Most cited articles on Cri du chat (patient information)

Review articles on Cri du chat (patient information)

Articles on Cri du chat (patient information) in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Cri du chat (patient information)

Images of Cri du chat (patient information)

Photos of Cri du chat (patient information)

Podcasts & MP3s on Cri du chat (patient information)

Videos on Cri du chat (patient information)

Evidence Based Medicine

Cochrane Collaboration on Cri du chat (patient information)

Bandolier on Cri du chat (patient information)

TRIP on Cri du chat (patient information)

Clinical Trials

Ongoing Trials on Cri du chat (patient information) at Clinical Trials.gov

Trial results on Cri du chat (patient information)

Clinical Trials on Cri du chat (patient information) at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Cri du chat (patient information)

NICE Guidance on Cri du chat (patient information)

NHS PRODIGY Guidance

FDA on Cri du chat (patient information)

CDC on Cri du chat (patient information)

Books

Books on Cri du chat (patient information)

News

Cri du chat (patient information) in the news

Be alerted to news on Cri du chat (patient information)

News trends on Cri du chat (patient information)

Commentary

Blogs on Cri du chat (patient information)

Definitions

Definitions of Cri du chat (patient information)

Patient Resources / Community

Patient resources on Cri du chat (patient information)

Discussion groups on Cri du chat (patient information)

Patient Handouts on Cri du chat (patient information)

Directions to Hospitals Treating Cri du chat (patient information)

Risk calculators and risk factors for Cri du chat (patient information)

Healthcare Provider Resources

Symptoms of Cri du chat (patient information)

Causes & Risk Factors for Cri du chat (patient information)

Diagnostic studies for Cri du chat (patient information)

Treatment of Cri du chat (patient information)

Continuing Medical Education (CME)

CME Programs on Cri du chat (patient information)

International

Cri du chat (patient information) en Espanol

Cri du chat (patient information) en Francais

Business

Cri du chat (patient information) in the Marketplace

Patents on Cri du chat (patient information)

Experimental / Informatics

List of terms related to Cri du chat (patient information)

Editor-in-Chief: Ethan Leeman

Please Join in Editing This Page and Apply to be an Editor-In-Chief for this topic: There can be one or more than one Editor-In-Chief. You may also apply to be an Associate Editor-In-Chief of one of the subtopics below. Please mail us [1] to indicate your interest in serving either as an Editor-In-Chief of the entire topic or as an Associate Editor-In-Chief for a subtopic. Please be sure to attach your CV and or biographical sketch.

What is Cri du chat?

Cri du chat syndrome is a group of symptoms that result from missing a piece of chromosome number 5. The syndrome’s name is based on the infant’s cry, which is high-pitched and sounds like a cat.

Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds. This syndrome may account for up to 1% of individuals with severe mental retardation.

Causes and Genetics

Cri du chat syndrome is rare. It happens when genetic information on chromosome 5 is missing. One missing piece, called TERT (telomerase reverse transcriptase) is involved in control of cell growth, and may play a role in how some of the features of this syndrome develop.

Most cases are believed to occur during the development of the egg or sperm. A minority of cases result from one parent carrying a rearrangement of chromosome 5 called a translocation and passing this on to the baby.

Most cases of cri-du-chat syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.

About 10 percent of people with cri-du-chat syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with cri-du-chat syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 5, which results in the intellectual disability and health problems characteristic of this disorder.


What are the symptoms of Cri du chat?

  • Cry that is high-pitched and sounds like a cat
  • Downward slant to the eyes
  • Low birth weight and slow growth
  • Low-set or abnormally shaped ears
  • Mental retardation
  • Partial webbing or fusing of fingers or toes
  • Single line in the palm of the hand (simian crease)
  • Skin tags just in front of the ear
  • Slow or incomplete development of motor skills
  • Small head (microcephaly)
  • Small jaw (micrognathia)
  • Wide-set eyes

Diagnosis

In addition to symptoms, the physical examination may show:

  • Inguinal hernia
  • Diastasis recti (separated abdominal muscles)
  • Low muscle tone
  • Epicanthal folds, an extra fold of skin over the inner corner of the eye
  • Incompletely or abnormally folded external ears

Genetic tests can show a missing part of chromosome 5. Skull x-ray may reveal an abnormal angle to the base of the skull.

When to seek urgent medical care

This is a diagnosis that is generally made in the hospital at birth. Your health care provider will discuss your baby's signs and symptoms with you. When you leave the hospital, it's important to maintain regular contact with your health care provider and other caregivers. Genetic counseling and testing is recommended for all persons with a family history of this syndrome.

Treatment options

No specific treatment is available for this syndrome. The mental retardation must be addressed, and counseling is recommended for the parents.

Parents of a child with this syndrome should have genetic counseling and a karyotype test to determine if one parent has a rearrangement of chromosome 5.

Where to find medical care for Cri du chat

Directions to Hospitals Treating Cri du chat

Prevention of Cri du chat

There is no known prevention. Couples with a family history of this syndrome who wish to become pregnant may consider genetic counseling.

What to expect (Outlook/Prognosis)

What can be expected varies, but mental retardation is usual. Half of children with Cri du chat syndrome learn sufficient verbal skills to communicate. The cat-like cry becomes less apparent over time.

Sources

References

Template:SIB Template:WH Template:WS