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.
Dental abnormalities are common.
Short stature with short limbs can be seen in many but not all individuals.
Penis is small and in females, clitoris and labia are small.
Some children have major birth defects of heart, kidneys, lips, and palate.
Short radius and ulna, abnormal hardening of bone and elevation in bone density may be identified on radiographs. Some children have or develop scoliosis which is an abnormality of the curvature of the spine / vertebral column.
Intellect is usually normal in majority.
DVL1