Skeletal dysplasias are complex genetic conditions that lead to impaired bone growth as well as other potential multi-system complications. Achondroplasia (ACH) leads to severe short stature, limb disproportionality, as well as other skeletal changes in the skull base and spine. Hypophosphatasia (HPP) leads to premature tooth loss, short stature, rickets, as well as muscular and respiratory issues. X-linked hypophosphatemia (XLH) leads to short stature, rickets, soft bones, and dental issues. All of these conditions now have therapies available to treat the underlying mechanism of impaired bone growth.
X-linked hypophosphatemia (XLH)