You are here: Home / Rare Disease Information / Rare Disease Database

Search Rare Diseases

Enter a disease name or synonym to search NORD's database of reports.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

Cri du Chat Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Adam Mezoff, MD, Professor of Pediatrics, Cincinnati Children's Hospital Medical Center and Scott Pentiuk MD, Assistant Professor of Pediatrics, Cincinnati Children's Hospital Medical Center, for assistance in the preparation of this report.

Synonyms of Cri du Chat Syndrome

  • 5p- syndrome
  • Cat's Cry Syndrome
  • CdCS
  • Lejeune syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant's age and sex. Affected children also exhibit delays in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor disability) and moderate to severe intellectual disability. Additional symptoms affecting different organ systems of the body can also occur. Most cases are thought arise from spontaneous (de novo) genetic errors very early in embryonic development.

Cri du Chat Syndrome Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

0-9 - A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z

NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.

 
Copyright ©2014 NORD - National Organization for Rare Disorders, Inc. All rights reserved.
The following trademarks/registered service marks are owned by NORD: NORD, National Organization for Rare Disorders, the NORD logo, RareConnect. .