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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
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
- Perinatal lethal
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Kosnik-Infinger L et al: Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Neurosurg Focus. 38(5):E10, 2015
- Liu J et al: Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia. Bone. 78:203-11, 2015
- 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
- Silvent J et al: Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. J Biol Chem. 289(35):24168-79, 2014
- Katsube Y et al: Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient. Gene Ther. 17(4):494-502, 2010
- Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
- Collmann H et al: Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 25(2):217-23, 2009
- Fauvert D et al: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 10:51, 2009
- Tadokoro M et al: New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr. 154(6):924-30, 2009
- Undale AH et al: Mesenchymal stem cells for bone repair and metabolic bone diseases. Mayo Clin Proc. 84(10):893-902, 2009
- Whyte MP: Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 24(6):1132-4, 2009
- Brun-Heath I et al: A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet. 73(3):245-50, 2008
- Simon-Bouy B et al: Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn. 28(11):993-8, 2008
- Stevenson DA et al: Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab. 93(9):3443-8, 2008
- Sinico M et al: Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Prenat Diagn. 27(3):222-7, 2007
- Brun-Heath I et al: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab. 84(3):273-7, 2005
- Whyte MP et al: Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 18(4):624-36, 2003
- Mornet E: Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat. 15(4):309-15, 2000
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KEY FACTS
Terminology
Imaging
Top Differential Diagnoses
Pathology
Clinical Issues
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
- Perinatal lethal
IMAGING
General Features
Ultrasonographic Findings
Radiographic Findings
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
Selected References
- Kosnik-Infinger L et al: Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. Neurosurg Focus. 38(5):E10, 2015
- Liu J et al: Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia. Bone. 78:203-11, 2015
- 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
- Silvent J et al: Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. J Biol Chem. 289(35):24168-79, 2014
- Katsube Y et al: Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient. Gene Ther. 17(4):494-502, 2010
- Whyte MP: Physiological role of alkaline phosphatase explored in hypophosphatasia. Ann N Y Acad Sci. 1192(1):190-200, 2010
- Collmann H et al: Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 25(2):217-23, 2009
- Fauvert D et al: Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. BMC Med Genet. 10:51, 2009
- Tadokoro M et al: New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. J Pediatr. 154(6):924-30, 2009
- Undale AH et al: Mesenchymal stem cells for bone repair and metabolic bone diseases. Mayo Clin Proc. 84(10):893-902, 2009
- Whyte MP: Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. J Bone Miner Res. 24(6):1132-4, 2009
- Brun-Heath I et al: A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. Clin Genet. 73(3):245-50, 2008
- Simon-Bouy B et al: Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. Prenat Diagn. 28(11):993-8, 2008
- Stevenson DA et al: Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. J Clin Endocrinol Metab. 93(9):3443-8, 2008
- Sinico M et al: Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. Prenat Diagn. 27(3):222-7, 2007
- Brun-Heath I et al: Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. Mol Genet Metab. 84(3):273-7, 2005
- Whyte MP et al: Marrow cell transplantation for infantile hypophosphatasia. J Bone Miner Res. 18(4):624-36, 2003
- Mornet E: Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. Hum Mutat. 15(4):309-15, 2000
