The most distinctive characteristic of CDC-syndrome is the high-pitched, cat-like cry of the infant. It is so characteristic that, already prior to the chromosome analysis, a diagnosis can be made. Although the voice will naturally lower as the child grows, the characteristic high pitch often persists into adulthood.

Other typical characteristics of the CDC - syndrome are :

· low birth weight
· small head circumfence (microcephaly)
· round moonshaped face and low set ears
· small receding chin (micrognathia)
· widely spaced eyes with a low nasal bridge (hypertolerism)
· folds of skin over the upper eyelid (epicanthic folds)
· frequently low muscle tone
· minor skeletal abnormalities
· minor visual impairments
· slight hearing loss

Serious physical problems happen but they are rare:

· heart defects
· kidney abnormalities
· hernias
· cleft lip and/or palate
· skeletal problems like scoliosis
· hip dislocation

Infants often have poor muscle tone, difficulty with sucking and swallowing and gastric reflux. Chronic constipation is very common throughout life. Many children experience frequent ear and upper respiratory infections.