24 top medical experts on progeroid form Ehlers-Danlos syndrome across 3 countries, including 4 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. progeroid form Ehlers-Danlos syndrome: A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: Galactosyltransferase 1 deficiency,  Galactosyltransferase I Deficiency,  Progeroid variant of Ehlers-Danlos syndrome,  defective biosynthesis of Proteodermatan sulfate,  Xylosylprotein 4-beta-galactosyltransferase deficiency


  

        

                    


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