- Mothers who do not have the disorder but who carry the gene for it.
- Disproportionately short stature.
- Small, wide hands and feet.
- Short fingers and toes.
- A malformed scrotum.
- Undescended testicles.
- Underdeveloped mid-portion of the face.
- Wide-set eyes and slightly slanted eyes with drooping eyelids.
- Small nose.
- Wide groove above the upper lip.
- Crease below the lower lip.
- Folding of the top portion of the ear.
- Delayed teeth growth.
- In some cases, cleft lip or palate.
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