Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hereditary Hyperphosphatasia


Synonyms of Hereditary Hyperphosphatasia
  • Chronic Congenital Idiopathic Hyperphosphatasemia
  • Familial Idiopathic Hyperphosphatasia
  • Familial Osteoectasia
  • Hyperostosis Corticalis Deformans Juvenilis
  • JPG
  • Juvenile Paget's Disease

Disorder Subdivisions



    General Discussion
    Hereditary hyperphosphatasia is a rare genetic bone disorder (osteopathy) that becomes apparent during infancy or early childhood. Affected individuals develop progressive skeletal malformations especially in the long bones of the arms and legs. Skeletal malformations in the legs may cause problems walking and may eventually result in short stature. Additional symptoms include pain, fever, fractures of affected bones, and muscle weakness. Because the biochemical and radiographic findings of hereditary hyperphosphatasia are similar to those of Paget's disease, a progressive skeletal disorder of abnormal bone destruction and reformation, the disorder is sometimes referred to as juvenile Paget's disease. However, despite these similarities, the two disorders are distinct. Hereditary hyperphosphatasia is inherited as an autosomal recessive trait.

    Organizations related to Hereditary Hyperphosphatasia
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • NIH/National Institute on Deafness and Other Communication Disorders (Balance)
      National Temporal Bone, Hearing
      Boston MA 02114-3096
      Phone #: --
      800 #: 800-822-1327
      e-mail: TBRegistry@meei.harvard.edu
      Home page: http://www.tbregistry.org
    • NIH/Osteoporosis and Related Bone Diseases - National Resource Center
      2 AMS Circle
      Bethesda MD 20892-3676
      Phone #: 202-223-0344
      800 #: 800-624-2663
      e-mail: niamsboneinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info/Bone/



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html