Diagnosis of achondroplasia
Achondroplasia has clinical and radiological characteristic features. We do not require molecular testing to verify the diagnosis in many cases. When clinical features appear in a newborn, we can use X-ray (radiography) findings to verify the diagnosis. However, if there is no confirmed identification of the genetic modification of the FGFR3 gene by molecular genetics, we can use examination and imaging techniques to establish the diagnosis.
A) Clinical signs that may help in the diagnosis of achondroplasia include:
- Disproportionate short stature
- Macrocephaly with frontal bossing
- Backward displacement of the midface and flat nasal bridge
- Shortening of the arms with unnecessary skin folds covering limbs
- Limitation of elbow extension
- Shortened fingers and toes (brachydactyly)
- Trident configuration of the hands
- Bowlegs
- The excessive inward curvature of the spine (lumbar lordosis)
- Joint flaccidity
