Table 2.

Select Clinical, Radiographic, and Laboratory Features of Hypophosphatasia by Type

TypeMOICardinal FeaturesAdditional Features
Perinatal
(severe) 		AR
  • Hypomineralization
  • Osteochondral spurs
  • Long bone bowing
  • Pretibial dimpling
Perinatal
(benign) 		AR/AD
  • Long bone bowing
  • Benign postnatal course
Infantile Mostly AR
  • Craniosynostosis
  • Hypomineralization
  • Rachitic ribs
  • ↑ serum calcium & phosphorus
  • Hypercalciuria
  • Additional clinical & radiographic features of infantile rickets 1, 2
  • Alveolar bone loss (anterior mandible)
  • Premature loss of deciduous teeth
Severe
childhood
(juvenile) 		AR/AD
  • Short stature
  • Skeletal deformity
  • Bone pain/fractures
  • Focal metaphyseal defects resembling radiolucent "tongues"
Premature loss of deciduous teeth (incisors)
Mild
childhood 		AR/AD↑ fracturesPremature loss of deciduous teeth (incisors)
Adult AR/AD
  • Stress fractures: metatarsal, tibia
  • Chondrocalcinosis
  • Dental caries & early loss or extraction of adult teeth
  • Osteopenia/osteoporosis
Odontohypo-
phosphatasia 		AR/ADAlveolar bone loss
  • Exfoliation (incisors)
  • Dental caries
1.

Clinical features of infantile rickets: growth failure, craniotabes, blue sclerae, scoliosis, thickening of wrists and ankles, bowing of lower extremities, lax ligaments, and hypotonia

2.

Radiographic features of infantile rickets: widened-appearing sutures, brachycephaly, flail chest, flared metaphyses, poorly ossified epiphyses, and bowed long bones in the lower extremities

From: Hypophosphatasia

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.