Prevalence of XLH

XLH is the most prevalent form of heritable hypophosphataemic rickets 1,2

Hypophosphataemic rickets occurs in 1 in 21,000 to 1 in 25,000 live births 3
XLH is inherited in an X-linked dominant pattern. 3
X-linked dominant inheritance 3
Affected father

Affected mother

50% of all children may be at risk, regardless of sex

However, approximately 20% to 30% of cases arise from spontaneous mutations.4,5 Along with family history, observing clinical manifestations may be important in identifying XLH.
1. Pettifor JM. What’s new in hypophosphataemic rickets? Eur J Pediatr. 2008;167(5):493-499. 2. Rafaelsen S, Johansson S, Ræder H, Bjerknes R. Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. Eur J Endocrinol. 2016;174(2):125-136. 3. Ruppe MD. X-linked hypophosphatemia. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. Gene Reviews. Accessed October 20, 2017. 4. Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphataemic rickets. J Hum Genet. 2012;57(7):453-458 5. Whyte MP, Schranck FW, Armamento-Villareal R. X-linked hypophosphatemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab. 1996;81(11):4075-4080 .
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