Cri du chat syndrome

Alternative names:

cat cry syndrome; chromosome 5p deletion

Symptoms:

• high-pitched cry sounds like a cat (for which the syndrome was named)
• low birth weight
• small head (microcephaly)
• wide-set eyes (hypertelorism)
• 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

Signs and tests:

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

• inguinal hernia
• diastasis recti (separated abdominal muscles)
• epicanthal folds