The incidence of hypophosphatasia (HPP) is unknown, but it is estimated that one child in every 100,000 births has one of the severe forms. This would mean that one child is born in Denmark every second year with one of the most severe forms of hypophosphatasia.

The most severe forms of hypophosphatasia are almost always inherited in an autosomal recessive pattern, while less severe forms may be the result of either autosomal dominant or recessive inheritance.

Hypophosphatasia can cause skeletal deformities or other bone-related problems, and/or produce other systemic complications in patients of all ages: newborns, children and adults.

REPORTED BONE-RELATED AND OTHER SYSTEMIC MANIFESTATIONS OF HPP
Systemic
manifestations
Symptom Patients with HPP
(0-18 years) (18+ years)
Skeleton & bone Skeleton & bone Severe hypomineralisation -
Craniosynostosis -
Rickets, skeletal deformity -
Osteomalacia
Slow-healing fracture
Repeated fractures
Chronic bone pain
Need for wheelchair or other daily
living aids due to reduced mobility
Respiratory Respiratory Respiratory failure -
Inadequate breathing that
requires breathing support
-
Pulmonary hypoplasia -
Neurological Neurological Vitamin B6‑related seizures -
Increased intracranial pressure -
Cerebral haemorrhage -
Kidney-related Kidney-related Nephrocalcinosis
Kidney failure -
Muscle-related Muscle-related Severe myopathy
Chronic muscle pain
Need for wheelchair or other daily
living aids due to reduced mobility
Delayed motor development or
completely missed motor milestones
-
Rheumatologica Rheumatological Chondrocalcinosis, progressive arthrosis -

Balasubramaniam S et al. J Inherit Metab Dis 2010; 33 (Suppl 3): 25-33.
Barvencik F et al. Osteoporos Int 2011; 22: 2667-2675.
Baumgartner-Sigl S et al. Bone 2007; 40: 1655-1661.
Berkseth KE et al. Bone 2013; 54: 21-27.
Chuck AJ et al. Ann Rheum Dis 1989; 48: 571-576.
Coe JD et al. J Bone Joint Surg Am 1986; 68: 981-990.
Collmann H et al. Childs Nerv Syst 2009; 25: 217-223.
Eade AW et al. Ann Rheum Dis 1981; 40: 164-170.
Guañabens N et al. J Bone Miner Res 2014; 29: 929-934.
Hofmann C et al. Bone 2013; 55: 150-157.
Kjellman M et al. Int J Oral Surg 1973; 2: 152-158.
Kozlowski K et al. Pediatr Radiol 1976; 5: 103-117.
Leung EC et al. JIMD Rep 2013; 11: 73-78.
Lundgren T et al. Scand J Dent Res 1991; 99: 357-364.
Mohn A et al. Acta Paediatr 2011; 100: 43-46.
Moulin P et al. Eur J Pediatr 2009; 168: 783-788.
Olsson A et al. J Oral Pathol Med 1996; 25: 343-347.
Reibel A et al. Orphanet J Rare Dis 2009; 4: 6.
Seshia SS et al. Arch Dis Child 1990; 65: 130-131.
Shohat M et al. Pediatr Radiol 1991; 21: 421-427.
Silver et al. MM Pediatr Pathol 1988; 8: 483-493.
Sutton RA et al. J Bone Miner Res 2012; 27: 987-994.
Van den Bos T et al. J Dent Res 2005; 84: 1021-1025.
Whyte MP et al. Am J Med 1982; 72: 631-641.
Whyte MP et al. N Engl J Med 2012; 366: 904-913.

SYMPTOMS AND CONDITIONS
ASSOCIATED WITH HYPOPHOSPHATASIA

COMMON SYMPTOMS AND CONDITIONS THAT
CAN BE CAUSED BY HYPOPHOSPHATASIA READ MORE

THE ALP CALCULATOR
– DIAGNOSTIC TOOL

LOW ALP ACTIVITY KEY TO DIAGNOSIS READ MORE


IMPORTANT DIFFERENTIAL DIAGNOSES

IMPORTANT DIFFERENTIAL 
DIAGNOSES/CONDITIONS READ MORE
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