211 top medical experts on Chondrodysplasia Punctata across 27 countries and 14 U.S. states, including 65 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Chondrodysplasia Punctata: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (chondrodysplasia punctata, rhizomelic), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Osteochondrodysplasias (1,587) and Narrower Categories: Rhizomelic Chondrodysplasia Punctata (187).
  4. Clinical Trials ClinicalTrials.gov : at least 3 including 2 Recruiting
  5. Synonyms: Chondrodystrophia Calcificans Congenita,  Conradi-Hunermann Syndrome,  Dysplasia Epiphysialis Punctata,  Stippled Epiphyses,  Stippled Epiphyses


  

        

                    


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