Small rib cage with shortened and thinned ribs with diffuse lung collapse
Respiratory insufficiency requiring tracheostomy tube
Healthy, mineralized bone
Hypomineralized bone in a patient with hypophosphatasia
Failure to thrive is a common early symptom in infants with hypophosphatasia.1,6,12
In infants, hypomineralization can create an illusion of wide open cranial sutures despite “functional” craniosynostosis6
Craniosynostosis can persist and become more pronounced in childhood, resulting in neurologic complications and the need for cranial surgery6
Learn about disease progression in an infant with hypophosphatasia.
How might hypophosphatasia impact children and adolescents in your practice?
aData from a noninterventional, retrospective chart review study designed to understand the natural history of 48 patients ≤5 years of age with severe perinatal- and infantile-onset hypophosphatasia. Patients included in the study were those diagnosed with hypophosphatasia based on at least one of the following: serum biomarker levels (below-normal alkaline phosphatase [ALP] and above-normal PLP or PEA), below-normal ALP and radiographic abnormalities, or genetic analysis of the ALPL gene. Additionally, onset of hypophosphatasia must have occurred prior to 6 months of age based on signs that included at least one of the following: respiratory compromise, rachitic chest deformity, and/or vitamin B6–responsive seizures.12
bRadiographs are from different patients with hypophosphatasia.