In this condition, short stature begins in the womb with the children typically developing asymmetry of their extremities, especially leg length discrepancy.
Cranio-facial features include small face and relatively large head, with the facial features ordered in a triangular configuration. The corners of the mouth tend to be downturned. The fifth fingers are usually very short and incurved, and there may be mild webbing of the soft tissue of the second and third toes.
During the first year of life, there may be a tendency to episodes of low blood sugar (hypoglycemia). Kidney malformations are frequent.