215 top medical experts on Wolf-Hirschhorn Syndrome across 27 countries and 16 U.S. states, including 31 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Wolf-Hirschhorn Syndrome: A syndrome caused by large deletions of the telomereic end of the short arm of chromosome 4 (4p) in Wolf-Hirchhorn syndrome critial regions (whscrs). Several candidate genes have been identified including whsc1 and whsch2 which appear to be responsible for the core phenotype and in combination with other linked and unlinked genes determine the severity and inclusion of rarer phenotypes. Most cases have a characteristic cranio-facial defect often referred to as "Greek helmet face" - a combined result of microcephaly, broad forehead, prominent glabella, hypertelorism, high arched eyebrows, short philtrum and micrognathia. In addition there is mental retardation, growth delays, epilepsy, and frequently a wide range of midline and skeletal defects, including hypospadias; congenital heart defects; cleft LIP; cleft palate; colobomata; clubfoot; clinodactyly; scoliosis; and kyphosis.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Chromosome Disorders (2,206), Multiple Abnormalities (3,208).
  4. Clinical Trials ClinicalTrials.gov : at least 1 including 1 Recruiting


  

        

                    


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