How is the diagnosis made?

Considering that the skeletal deformities of hypochondroplasia are moderately similar to those of achondroplasia, radiographic findings must be well-scrutinized to give a correct diagnosis. The best features to examine are the skull and pelvis; each are more severely affected in the case of achondroplasia. In order to differentiate between hypochondroplasia and familial short stature, vertebral and pelvic changes should be considered. Vertebral abnormalities are characteristic onlyof hypochondroplasia. The appearance of the long bones may be similar to metaphyseal chondrodysplasia, Schmid type. Again, the differential feature is the vertebral abnormalities, which are only present in hypochondroplastic patients. It is difficult to diagnosis hypochondroplasia in infancy, although birth length may be slightly below average. By 3 years of age, slow growth and bowlegs are early indicators of this skeletal dysplasia.

• What are the physical characteristics of Hypochondroplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References