Definition of "Cri du chat"

Last modified: 1 day



Cri du chat syndrome (aka chromosome 5p deletion syndrome, Lejeune's syndrome, from French meaning "cat cry") is a rare genetic disorder, due to a deletion from chromosome 5.

Sx
  • Characteristic cat-like cry, similar to that of a meowing kitten, due to problems w/ larynx and nervous system. 33% of kids lose the cry by 2yo
  • Feeding problems because of difficulty swallowing and sucking
  • Low birth weight and poor growth
  • Severe cognitive, speech, and motor delays
  • behavioral problems, e.g. hyperactivity, aggression, tantrums, repetitive movements
  • Unusual facial features which may change over time
  • Excessive drooling
  • Small head and jaw
  • Wide eyes
  • Skin tags in front of eyes
  • Hypotonia
  • Microecaphy
  • Growth retardation
  • Round face with full cheeks
  • Hypertelorism
  • Epicanthal folds
  • Down-slanting palpebral fissures
  • Strabismus
  • Flat nasal bridge
  • Down-turned mouth
  • Micrognathia
  • Low-set ears
  • Short fingers
  • Single palmar creases
  • Cardiac defects, e.g. VSD (ventricular septal defect), ASD (atrial septal defect), PDA (patent ductus arteriosus), tetralogy of Fallot
  • Infertility is NOT associated w/ Cri du chat
Epidemiology
  • Affects 1 in 50,000 live births
  • Affects all ethnicities
  • Is more common in females by 4:3

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Definition of Cri du chat | Autoprac


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