Short stature with short limbs is the most important feature. The facial phenotype which helps in diagnosis is prominent forehead, increased distance between the eyes, short nose with upturned nares. This gives an appearance of a fetus – i.e. a baby in the womb during early development. These features do not lead to any problems.
Penis is small and in females, clitoris and labia are small.
Some children have major birth defects of heart, kidneys, lips and palate.
Abnormalities of vertebrae and ribs may be identified on radiographs. Some children have or develop scoliosis which is an abnormality of the curvature of the spine / vertebral column.
ROR2