Individuals with this condition may have short stature noticed at birth. They may have some difficulties in attaining motor milestones at appropriate age. Their hands and feet may be short with short fingers and toes. Some of them may have soft and extensible skin. Their joints may be excessively mobile and may sometimes be dislocated. Some of the individuals may have deformity of joints and sparse hair.
A doctor may suspect this disorder when an individual has these clinical features and radiographs are suggestive. The doctor may also order a blood test and additional radiographs to confirm the diagnosis.
NEPRO