Table 1.

General clinical features of congenital hypophosphatemias

Rachitic features (varus or valgus deformity of lower limbs, torsion of tibia, widening of wrists, widened costochondral junction, frontal bossing, dolicocephaly)

Gait abnormalities (waddling)

Impaired growth, short stature (disproportionately affecting lower limbs)

Delayed motor milestones (variable)

Muscle weakness (variable)

Fractures (though not a common presentation in children)

Tooth abnormalities (abscesses, periodontitis)