202 top medical experts on Pycnodysostosis across 24 countries and 2 U.S. states, including 21 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Pycnodysostosis: Rare autosomal recessive syndrome characterized by delayed closing of cranial sutures, short stature, acro-osteolysis of distal phalanges, dental and maxillofacial abnormalities and an increase in bone density that results in frequent bone fractures. It is associated with bone resorption defect due to mutations in the lysosomal cysteine protease cathepsin K.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Inborn Genetic Diseases (2,477), Lysosomal Storage Diseases (2,636), Osteochondrodysplasias (1,587).
  4. Synonyms: Pyknodysostosis


  

        

                    


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