From:  Hypophosphatasia: current concepts in diagnosis and management of a rare metabolic disorder

 Clinical subtypes of hypophosphatasia, inheritance patterns and key clinical manifestations.

SubtypeInheritanceClinical manifestations
1. Perinatal lethalARRespiratory failure, seizures, hypercalcemia, early death
2. Prenatal benignAR/ADSkeletal abnormalities present in utero with spontaneous postnatal improvement
3. Infantile
(< 6 months)		ARFailure to thrive, craniosynostosis, seizures, intracranial hypertension, hypercalcemia, hypercalciuria, nephrocalcinosis, rickets, myopathy, early loss of decidual teeth
4. Childhood
(6 months–18 years)		AR/ADPremature tooth loss, short stature, chronic muscle pain, myopathy, defective mineralization, osteomalacia, recurrent fractures, delayed bone healing
5. Adult (> 18 years)AR/ADPremature tooth loss, chronic muscle pain, metatarsal fractures, recurrent fractures and pseudo-fractures, delayed bone healing, osteomalacia, enthesopathy, altered gait, pseudogout, CPPD arthritis
6. odonto-HPPAR/ADIsolated dental disease without skeletal involvement. Painless premature exfoliation of deciduous teeth, premature tooth loss, hypoplasia of enamel and dentine, wide pulp chamber, thin and short roots, severe dental caries, periodontal disease
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The table is based on the references [2, 3, 9, 12, 30]. AD: autosomal dominant; AR: autosomal recessive; CPPD: calcium pyrophosphate deposition disease; odonto-HPP: odontohypophosphatasia.