Symptoms:

• Cry that is high-pitched and sounds like a cat
• Downward slant to the eyes
• Low birth weight and slow growth
• Low-set or abnormally shaped ears
• Mental retardation
• Partial webbing or fusing of fingers or toes
• Single line in the palm of the hand (simian crease)
• Skin tags just in front of the ear
• Slow or incomplete development of motor skills
• Small head (microcephaly)
• Small jaw (micrognathia)
• Wide-set eyes

Signs and tests:

In addition to symptoms, the 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

Genetic tests can show a missing part of chromosome 5. Skull x-ray may reveal an abnormal angle to the base of the skull.