Cri-du-chat Syndrome (Cat’s Cry Syndrome)

Pathophysiology

1) congenital severe mental retardation 2) cause is deletion in short arm of chromosome 5

Signs and Symptoms

1) cat-like cry 2) severe mental retardatioon 3) epicanthic skin folds 4) failure to thrive 5) microcephaly 6) congenital heart defects 7) simian crease on hands 8) flat feet 9) asymmetric facies 10) microcephaly 11) lens dislocation

Inheritance/Epidemiology

1) most cases are sporadic but a few have shown reciprocal translocation in parents 2) occurs in 1/50,000 3) shortened life expectancy (25-35 years)

Treatment

surgical as various conditions arise

Tips for USMLE

distinctive feature is that the cry of these patients (even as newborns) resembles the meow of a cat