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.
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Epidemiology
Cri du chat syndrome is rare with an incidence of 1 in 15,000-50,000 births 1.
Clinical presentation
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.
Pathology
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
Treatment and prognosis:
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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