Cri du chat syndrome

• High-pitched cry sounds like a cat
• Low birth weight and slow growth
• Small head (microcephaly )
• Wide-set eyes (hypertelorism)
• Downward slant to the eyes (palpebral fissures)
• Small jaw (micrognathia )
• Low-set ears (may be malformed)
• Skin tags just in front of the ear
• Partial webbing or fusing of fingers or toes
• Single line in the palm of the hand (simian crease )
• Mental retardation
• Slow or incomplete development of motor skills

In addition to the other findings (listed with Symptoms), physical examination may show:

• Inguinal hernia
• Diastasis recti (separated abdominal muscles)
• Low muscle tone
• Epicanthal folds, an extra fold of skin over the inner corner of the eye
• Incompletely or abnormally folded external ears
• Amissing portion of the short arm of chromosome 5 seen on chromosome analysis (if not, a more detailed type of genetic test called FISH analysis may reveal that a small piece of this chromosome is missing)
• An abnormal angle to the base of the skull seen on lateral skull x-ray

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