However, pontine hypoplasia seems to be the most common feature.
Cri-du-chat syndrome is characterized by intellectual disability and delayed development, small head size microcephaly , low birth weight, and weak muscle tone hypotonia in infancy.
The most common heart defect is patent ductus arteriosus, a condition in which the passage ductus between the blood vessel that leads to the lungs pulmonary artery and the major artery of the body aorta fails to close after birth.
Sometimes this can be difficult because the features may not be obvious as patients show a cytogenetic variation leading to phenotypic variation.
Infants who are born with the syndrome often have a high-pitched cry that sounds like a cat, hence the condition's name.
While no one specific test can determine if symptoms are caused by cri du chat syndrome, evidence of particular medical conditions, visual observance of physical abnormalities and testing of behavioral and cognitive functionality can help to determine an appropriate diagnosis.
The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions.
However, patients benefit from rehabilitation, but results are better the earlier it starts.