Cri du chat syndrome; Causes, Characteristic Features and Management


Cri du chat syndrome also called Chromosome 5 short-arm deletion; Lejeune syndrome. 


The exact incidence is unclear, but is probably about one live birth in 20 000 suffer from this syndrome. The sexes appear to be affected equally, although it has been suggested that cri du chat syndrome is more common in girls.


 Professor Lejeune fully documented this syndrome in the 1960s.  


Cri du chat syndrome is a chromosomal disorder where chromosome 5 is affected; the short arm of this chromosome being deleted in children affected by this syndrome.Most cases arise as a new mutation, however a balanced translocation may be present in one or other of the parents. If latter is the case then there is an increased risk of recurrence in a future pregnancy. 

Antenatal diagnosis can be made by chorionic villus sampling at nine to 12 weeks of pregnancy and later (16 weeks) by amniocentesis

Characteristics Features:

  • A high-pitched cry: It is the most significant characteristic of the cri du chat syndrome. This is similar to a kitten – so is the name of the syndrome. This is due to the relatively small size of the larynx. As this structure enlarges with growth, the unusual catlike cry is lost. 
  • Short stature: Since birth, throughout life, children with this syndrome are small, rarely growing to a height above that measured on the third centile of the standard growth charts.  
  • Facial characteristics: Children with this syndrome have round faces with a downward slant to the eyes, which are widely set apart
  • Hypotonia:The child with cri du chat syndrome is floppy at birth and might have   severe breathing difficulties. Head control is slow in being attained, and movements are restricted. Most adults with the condition have poor muscle development.
  • Congenital heart disease: It is a mostly common feature in children with cri du chat syndrome. Patent ductus arteriosus is most often seen and the murmur can usually be heard at birth. 
  • Learning disability: There are no reports of children having an IQ of above 35. Most of the milestones of early life like smiling, following objects visually are delayed or sometimes absent. 


The baby may initially need nursing in an incubator to promote adequate respiration. Tube Feeding may also be necessary for proper nutrition. Even if the baby can suck adequately, feeding is very slow, which in turn exhausts the hypotonic baby. 

  • For respiratory problems: During infancy, there are severe respiratory and feeding difficulties. This is due both to the small size of the larynx and associated structures and also to the general floppiness of the baby. 
  • Respiratory problems improve with the growth in size of the respiratory passages over the succeeding months. 
  • Congenital heart disease: They may need surgical repair depending on the site and size of the defect, and the effects this exerts on the child’s cardiac function.
  • Learning disability: It has been specifically noted that early and frequent stimulation of the baby with cri du chat syndrome is beneficial. Verbal stimulation. Only very few children with this syndrome develop any communication skills at all. But with sufficient, appropriate stimuli some responses and feedback from the child can be gained – albeit at a very primitive level.
  • Walking skills: are usually attained late. This is due both to the hypotonia seen in infancy and also to the degree of learning disability. Structured exercise from a physiotherapist may be helpful and benefit the poor muscle development.  


The child with cri du chat syndrome will regrettably never be able to lead an independent life and will always need full-time care. Life span is limited, mainly due to respiratory and/or cardiac problems, but many children survive into adulthood. The oldest recorded adult with cri du chat syndrome is 56 years of age.

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