Cri du chat syndrome

Last revised by Mohammad Taghi Niknejad on 6 Apr 2023

Cri du chat syndrome is a rare congenital disorder caused by the deletion of the short arm of chromosome 5. A high-pitched monotonous cry is the significant characteristic finding 1.

Cri du chat syndrome is rare with an incidence of 1 in 15,000-50,000 births 1.

A high-pitched monotonous cry is the characteristic finding. The patient also usually has craniofacial malformations such as microcephaly, hypertelorism, large nasal bridge and short philtrum 1. Newborns also have microcephaly and have an increased risk of asphyxia 2. They also present with orofacial abnormalities and developmental/behavioral issues.

Cri du chat syndrome is caused by the deletion of the short arm of chromosome 5. It can be diagnosed antenatally using amniocentesis 3. Structural abnormalities may also be visible sonographically 1.

If clinical suspicion is high despite a normal karyotype, further tests include 1:

  • FISH

  • CGH (comparative genomic hybridization)

  • quantitative PCR

Whilst no specific treatment exists, a multidisciplinary approach has been shown to improve outcomes 1. This includes early rehabilitation, physical therapy, speech therapy and genetic counseling for families 1.

90% of deaths occur within the first year of life 1.

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