Cri du Chat Characteristics
While babies with larger deletions will be more severely affected than those with smaller deletions in and above band 15.2, they all generally exhibit some or most of the major identifying characteristics, including:
Creases on the palms of the hands
Hypertelorism (widely spaced eyes)
Low broad nasal ridge - Low set ears
Microcephaly (small head)
Micrognathia (small, receding chin)
Other medical problems present in a small minority of children with Cri du Chat syndrome include heart defects, cleft palate, bowel and kidney abnormalities, scoliosis, hernias, minor hearing impairments, gastrointestinal abnormalities, "turned eye", gastric reflux, chronic constipation, frequent ear infections, and low muscle tone.
The developmental effects of the syndrome on the child vary widely, but nearly all children with this syndrome will exhibit a certain degree of intellectual disability, and delayed motor skill development, speech, and language acquisition. Fortunately, most medical issues associated with Cri du Chat are highly treatable, and early intervention programs including physiotherapy, behavioral management, and speech and language therapy have been proven to be extremely beneficial.