Saturday, February, 11, 2012

Cri du chat syndrome

Table of Contents

Alternative Names

Chromosome 5p deletion syndrome; 5p minus syndrome; Cat cry syndrome


Symptoms
  • 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

Signs and tests

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.



Review Date: 08/26/2009
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)