Hypophosphatasia (also called deficiency of alkaline phosphatase or phosphoethanolaminuria and sometimes abbreviated as HPP) is a rare, and sometimes fatal, metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization, respiratory compromise or vitamin B6 dependent seizures to a milder, progressive osteomalacia later in life. [Source: Wikipedia ]

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Hypophosphatasia adult form
Hypophosphatasia perinatal lethal and infantile forms
Severe hypophosphatasia
May Cause
Abnormal scapula
Altered calcium concentration
Altered phosphorus concentration
Anodontia or hypodontia
Basilar invagination
Blue sclerae
Bowed bones
Bowed tubular bones
Broad tubular bones
Chondral calcification
Cone-shaped epiphysis
Congenital coxa vara
Congenital generalized osteoporosis
Congenital hypodontia
Congenital premature craniosynostosis
Congenital short hands and feet
Congenital short limbs
Congenital skull defect
Congenital vertebral abnormality
Congenitally abnormal scapula
Coxa vara
Defective cranial ossification
Defective dentition
Delayed closure of fontanelles
Delayed dentition
Delayed ossification of the pubic bone
Dense vertical metaphyseal lines
Dental caries
Dental defect
Disk calcification
Enlarged foramen magnum
Erlenmeyer flask deformity
Flaring of ribs
Floating teeth
Generalized osteopenia or osteolysis of the jaws
Generalized skull thinning
Generalized wide epiphyseal plate
Genu valgum
Genu varum
Incomplete ossification of cranial sutures
Indistinct epiphyses
Indistinct frayed metaphyses
Intervertebral disk calcification
Large fontanelle
Large foramen magnum
Lethal skeletal dysplasia
Medullary nephrocalcinosis
Metaphyseal cupping
Metaphyseal fragmentation
Metaphyseal spur
Multiple abnormal epiphyses
Multiple collapsed vertebrae
Multiple expanding rib lesions
Multiple fractures
Pathologic fracture
Periarticular calcification
Premature tooth loss
Pubic bone nonossification
Radiolucent metaphyseal bands
Secondary craniosynostosis
Short narrow thoracic cage
Short ribs
Short squat bones
Skin dimple
Small anterior fontanelle
Soft-tissue calcification
Symmetrical anterior rib flaring
Thick ribs
Thoracic dysplasia
Tibiotalar tilt
Type B pelvis
Vertebral malsegmentation
Wide diametaphysis
Wide metaphysis
Wide pubic symphysis
Wide sutures
Wormian bones