Making the connection

Hypophosphatasia (HPP) in neonates and infants

Low alkaline phosphatase (ALP) in infancy causes key signs and symptoms of HPP that may be life-threatening.1

Early and accurate diagnosis of HPP in neonates and infants is critical due to the high mortality rate2

More than half of untreated infants die by 1 year of age.
Chart detailing the high mortality rates of infants with HPP 
Chart detailing the high mortality rates of infants with HPP 
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Sonographic and radiologic findings in neonates and infants with HPP may reveal symptoms that overlap with other skeletal dysplasias, but key features can help narrow the differential diagnosis3

 
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Chart detailing sonographic and radiographic findings in infants with HPP 
Key radiographic and sonographic features of skeletal dysplasias
  • HPP
  • Cleidocranial dysplasia
  • Achondrogenesis/hypochondrogenesis
  • HPP
  • HPP
  • Campomelic dysplasia
  • Cleidocranial dysplasia
  • Thanatophoric dysplasia
  • HPP
  • Osteogenesis imperfecta type II
  • Campomelic dysplasia
  • Thanatophoric dysplasia
  • HPP
  • Osteogenesis imperfecta type II
  • Campomelic dysplasia
  • Achondrogenesis/hypochondrogenesis
  • Thanatophoric dysplasia
  • HPP
  • Osteogenesis imperfecta type II
  • HPP
  • Campomelic dysplasia
  • Cleidocranial dysplasia
  • HPP
  • Cleidocranial dysplasia
  • HPP
  • Achondrogenesis/hypochondrogenesis
  • Thanatophoric dysplasia
Baby 

Patient image is hypothetical.

Any of these signs/symptoms PLUS persistently low ALP are sufficient for an HPP diagnosis1,4*

In infants, what is considered “low ALP” is variable based on the stage of infancy. Ensure that lab results for ALP levels reflect age- and sex-adjusted reference ranges. 4,5
Learn how to determine if your patient’s ALP level is low.

QUICK QUESTION

Early and accurate diagnosis of HPP is crucial in neonates and infants because:

Answer:All of these reasons are why early and accurate diagnosis is critical for neonates and infants.1,2,6

References: 1. Rockman-Greenberg C. Pediatr Endocrinol Rev. 2013;10(suppl 2):380-388. 2. Whyte M, et al. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. Poster presented at: Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting; May 3-6, 2014; Vancouver, BC, Canada. 3. Offiah A, et al. Pediatr Radiol. 2019;49:3-22. doi: 10.1007/s00247-018-4239-0 4. Colantonio DA, et al. Clin Chem. 2012;58(5):854-868. doi: 10.1373/clinchem.2011.177741 5. Bishop N, et al. Arch Dis Child. 2016;101(6):514-515. doi: 10.1136/archdischild-2015-309579 6. Davies JH, et al. Arch Dis Child. 2005;90(4):373-378. doi: 10.1136/adc.2004.053553

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