ESPE Abstracts

Background: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic phosphate wasting disorder leading to rickets, lower limb deformities as well as short and disproportionate stature. The condition is inherited in the majority, however spontaneous mutations are reported in ≈30% of cases. Its rarity, coupled with its diverse clinical manifestations, may lead to delayed diagnosis and subsequently delayed treatment initiation. The objective of this an...