Major diagnostic criteria:
(1) intrauterine growth retardation (birth weight < 3 standard deviations below mean)
(2) proportionate short stature (postnatal growth retardation)
(3) normal head circumference
(4) triangular face (broad appearing forehead with small, pointed chin)
(5) fifth finger clinodactyly
Minor criteria (supportive):
(1) short arm span (arm span less than height in the presence of a normal upper-to-lower segment ratio)
(2) limb length asymmetry (may involve upper and/or lower extremities)
(3) hypogenitalism or cryptorchidism (in males)
(4) hypotonia
(5) normal intelligence and psychomotor development
Occasional findings:
(1) micrognathia, which may be associated with the Pierre-Robin sequence
(2) brachydactyly of the fifth finger
