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Disease Information for Hyperphosphatasia, hereditary

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: Be the first to add a definition for Hyperphosphatasia, hereditary
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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