Genetics of Ehlers-Danlos Syndrome Differential Diagnoses

Updated: Sep 05, 2019
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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DDx

Diagnostic Considerations

These include the following:

  • Stickler syndrome

  • Cutis laxa (elastolysis)

  • TGFBR-related phenotype (transforming growth factor beta receptor–related phenotype)

  • Ehlers-Danlos–like syndrome due to tenascin-X deficiency (OMIM #606408)

  • Neuromuscular disease

  • Ehlers-Danlos/osteogenesis imperfecta overlap syndromes

  • Vasculitis [31]

Differential Diagnoses