Although confirmation of a specific genetic marker is in a significant number of individuals, there are no tests to clearly determine if this is what a person has. As a syndrome, a diagnosis is typically given for children upon confirmation of the presence of several symptoms listed below. Symptoms are intrauterine growth restriction (IUGR) combined with some of the following: * Often small for gestational age (SGA) at birth (birth weight less than 2.8 kg) * Feeding problems: the baby is uninterested in feeding and takes only small amounts with difficulty * Hypoglycemia * Excessive sweating as a baby, especially at night, and a greyness or pallor of the skin. This may be a symptom of hypoglycemia * Triangular face with a small jaw and a pointed chin that tends to lessen slightly with age. The mouth tends to curve down * A blue tinge to the whites of the eyes in younger children * Head circumference may be of normal size and disproportionate to a small body size * Wide and late-closing fontanelle * Clinodactyly * Body asymmetry: one side of the body grows more slowly than the other * Continued poor growth with no "catch up" into the normal centile lines on growth chart * Precocious puberty (occasionally) * Low muscle tone * Gastroesophageal reflux disease * A striking lack of subcutaneous fat * Constipation (sometimes severe) The average adult height for patients without growth hormone treatment is 4'11" for males and 4'7" for females.
Silver–Russell syndrome
Miller–Dieker syndrome
Meckel–Gruber syndrome
Laurence–Moon syndrome
Intestinal metabolic bromhidrosis syndrome
Miller syndrome
Nathalie syndrome
Halperin-Birk syndrome