Table 3.

X-Linked Hypophosphatemia: Frequency of Select Features

Feature% of Persons w/FeatureComment
ChildrenAdults
Short stature50%-85%Percent of persons w/feature is dependent on age, treatment, population, & definition of feature used.
Lower limb bowing70%-100%
Bone & joint pain50%-80%70%-100%
Enthesopathy70%-100%Not clinically evident in younger children but develops progressively w/age in all adults, particularly after age 30 yrs
Dental complications40%-50%60%-85%Incidence becomes progressive w/age.
Craniosynostosis5%-10%Potentially underrecognized
Need for surgical interventions40%-50%60%-95%Most commonly osteotomies, joint replacement surgery, skull surgery
Fractures20%-50%
  • Incl insufficiency & pseudofractures
  • Fractures are not typical in children.
Hearing loss &/or tinnitus2%-8%14%-55%Actual incidence of hearing loss &/or tinnitus may be higher than reported.

From: X-Linked Hypophosphatemia

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