The diagnosis of hypochondroplasia is made based on clinical and radiographic features. Testing of the FGFR3 gene can also be done for confirmation although in some individuals with hypochondroplasia, a gene change cannot be identified.
For parents of typical stature, hypochondroplasia is rarely diagnosed prenatally or at birth. Clinical features tend to be subtle. In mild cases, it may remain undetected throughout life. The first sign of the condition may be a failure to achieve the normal pubertal growth spurt. Most typically however, hypochondroplasia is diagnosed in early childhood when growth differences are first noticed.
If there’s a family history of hypochondroplasia, an amniocentesis or CVS (chorionic villus sampling) during pregnancy can check the fetus for the gene change (if known).