523 top medical experts on Noonan Syndrome across 64 countries and 37 U.S. states, including 333 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Noonan Syndrome: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, cryptorchidism, multiple cardiac abnormalities (most commonly including pulmonary valve stenosis), and some degree of intellectual disability. The phenotype bears similarities to that of turner syndrome that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (ptpn11, kras, SOS1, NF1 and RAF1) have been associated the NS phenotype. Mutations in ptpn11 are the most common. leopard syndrome, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in ptpn11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Broader Categories (#Experts): Connective Tissue Diseases (1,572), Congenital Heart Defects (4,797), Craniofacial Abnormalities (2,386).
  4. Clinical Trials ClinicalTrials.gov : at least 19 including 8 Completed, 6 Recruiting
  5. Synonyms: Male Turner Syndrome,  Male Turner Syndrome


  

        

                    


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