Russell-Silver syndrome

Alternative names:

Russell-Silver dwarfism; Silver syndrome

Symptoms:

• slow growth from birth, intrauterine growth retardation
• short stature
• small triangular face
• port wine stain (some)

Signs and tests:

Physical examination may show

• delayed closure of anterior fontanel
• side to side asymmetry (especially limbs)
• curved-in fifth finger (clinodactyly)
• simian crease in both hands (single crease in the palm)
• normal intelligence
• micrognathia (small jaw)

Tests:
There may be elevated levels of the hormones called gonadotropins. A glucose tolerance test may show episodes of low blood sugar (hypoglycemia) when fasting. Skeletal X-rays may show a discrepancy between "bone age" (the age that the bones appear) and the actual age or sexual development.