Often, many cases are overlooked or misdiagnosed as being familial short stature because the short stature and limb shortening can be mild.
Diagnosis is made by careful physical examination and x-rays.
The final adult height is 125-160cm. Infants with hypochondroplasia have low normal birth weights and lengths. The facial features are similar to achondroplasia but are less striking. The head circumference is often in the normal range but the forehead is often prominent as in achondroplasia. The nasal bridge and midface are not depressed as in achondroplasia.