Disease Information for Hyperphosphatasia, hereditary

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Clinical Manifestations
Signs & Symptoms
Poor weight gain/child
Macrocephaly/Large head
Megalocephaly
Skull/head enlargement
Sternum deformities
Short stature
Typical Clinical Presentation
Presentation/Fractures Pathologic Minimal Trauma
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset ages 2 to 3 yrs
Onset/Childhood
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Increased
Acid Phosphatase (Tartrate Resistant TRAP) (Lab)
PAP (Prostate Acid Phosphatase) (Lab)
Acid phosphatase, serum (Lab)
Alkaline phosphatase, bone isoenzyme/serum (Lab)
Alkaline phosphatase, serum (Lab)
URINE Leucine aminopeptidase
Diagnostic Test Results
CT Scan
CT/Dexa-Scan Bone density Abnormal
X-RAY
Xray/Anomalous rib cage/congenital
Xray/Bone cysts/dense halo/pseudocysts/Skeletal
Xray/Bone density/variable/patches/osteopenia/Bone
Xray/Bone Pagets disease lesions/Skeletal
Xray/Long bones abnormality/Skeletal
Xray/Long bones/cylindrical/lost metaphyseal modeling
Xray/Looser's/Pseudofractures/Skeletal
Xray/Ribs Abnormal/Deformities
Xray/Skeletal findings
Xray/Skull abnormality
Xray/Skull bones thickened
Associated Diseases & Rule outs
Rule Outs
Rickets/vitamin D deficiency
Associated Disease & Complications
Bone Cyst Unicameral
Bony deformities/developmental
Fractures, general
Growth retardation/failure
Hyperphosphatasia, hereditary
Kyphoscoliosis
Male osteoporosis syndrome
Osteoporosis/osteopenia
Pathologic fractures
Pectus carinatum/pigeon chest
Recurrent bone fractures
Rib anomalies/Hypoplastic/deformed
Skeletal dysplasia
Thoracic deformity/congenital
Metabolic Bone Disease
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Skeletal (category)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Osteoporosis Secondary
Pathophysiology/Skeletal defomities/acquired
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Biochemical (category)
PROCESS/Hereditofamilial (category)
Synonyms
Synonym
Hyperphosphatasia hereditary, Synonym/Juvenile Paget disease/bone
Definition
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External Links Related to Hyperphosphatasia, hereditary
Google
Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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