Ehlers-Danlos Syndrome Differential Diagnoses

Updated: Mar 31, 2023
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD  more...
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Diagnostic Considerations

Also consider the following:

  • Muscular hypotonia (kyphoscoliotic type)

  • Loeys-Dietz syndrome [48]

  • Child abuse: Ehlers-Danlos syndrome may resemble child abuse in some patients, a potential medicolegal concern and challenge. [49]

  • Systemic connective-tissue disorder with polyvalvular heart; generalized joint hypermobility and related musculoskeletal complications; soft, velvety, and hyperextensible skin; short limbs; hearing impairment; and facial dysmorphism associated with TAB2 mutations [50]

The value of whole-exome sequencing in the differential diagnosis of disorders with overlapping phenotypes and various pathogenesis should be emphasized. [51]

Differential Diagnoses