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.
- karyotyping (chromosome analysis) should show a missing portion of the short
arm of chromosome 5. If it does not a more detailed type of genetic test (FISH
analysis) may reveal that a small piece of this chromosome is missing.
- lateral skull X-ray may show an abnormal angle to the base of the skull.