Rare inherited disorder of bone metabolism resulting in loss of function of gene ALPL coding for tissue-nonspecific alkaline phosphatase (TNSALP)
3 subtypes
Perinatal lethal
Micromelia and severe hypomineralization
Infantile
Rickets-like skeletal changes, fractures, premature shedding of teeth
Late onset (adult form)
Often limited to biochemical findings
Bowing, pseudofractures, ectopic calcifications in spinal ligaments and joint cartilage, rachitic changes in ribs
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Salles JP: Hypophosphatasia: biological and clinical aspects, avenues for therapy. Clin Biochem Rev. 41(1):13-27, 2020
Offiah AC et al: Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol. 49(1):3-22, 2019
Takahashi Y et al: Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia. Prenat Diagn. 37(5):491-6, 2017
Whyte MP: Hypophosphatasia: enzyme replacement therapy brings new opportunities and new challenges. J Bone Miner Res. 32(4):667-75, 2017
Whyte MP et al: Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 75:229-39, 2015
Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
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TERMINOLOGY
Definitions
Rare inherited disorder of bone metabolism resulting in loss of function of gene ALPL coding for tissue-nonspecific alkaline phosphatase (TNSALP)
3 subtypes
Perinatal lethal
Micromelia and severe hypomineralization
Infantile
Rickets-like skeletal changes, fractures, premature shedding of teeth
Late onset (adult form)
Often limited to biochemical findings
Bowing, pseudofractures, ectopic calcifications in spinal ligaments and joint cartilage, rachitic changes in ribs
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
Salles JP: Hypophosphatasia: biological and clinical aspects, avenues for therapy. Clin Biochem Rev. 41(1):13-27, 2020
Offiah AC et al: Differential diagnosis of perinatal hypophosphatasia: radiologic perspectives. Pediatr Radiol. 49(1):3-22, 2019
Takahashi Y et al: Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia. Prenat Diagn. 37(5):491-6, 2017
Whyte MP: Hypophosphatasia: enzyme replacement therapy brings new opportunities and new challenges. J Bone Miner Res. 32(4):667-75, 2017
Whyte MP et al: Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 75:229-39, 2015
Faruqi T et al: Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders. Biomed Res Int. 2014:670842, 2014
Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
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