Joint Hypermobility Differential Diagnoses

From WikiMSK

See reviews by Tofts et al, Colombi et al, and Kumar et al [1][2][3]

Differential Diagnosis

  • Generalised Joint Hypermobility
  • Hypermobility Spectrum Disorder or Hypermobile Ehlers Danlos Syndrome
  • Ehlers Danlos Syndrome
  • Marfan Syndrome
  • Osteogenesis Imperfecta Type 1
  • Geroderma Osteodysplasticum
  • Loeys-Dietz
  • Arterial Tortuosity Syndrome
  • Lateral Meningocele Syndrome
  • Bethlem Myopathy
  • Ullrich congenital muscular dystrophy
  • Acromesomelic Dysplasia
  • Coffin-Lowry Syndrome
  • Cohen Syndrome
  • Cranioectodermal Dysplasia
  • Deletion 2q37 Syndrome
  • Down Syndrome
  • Floating-Harbor Syndrome
  • Hajdu-Cheney Syndrome
  • Kabuki Syndrome
  • Loeys-Dietz Syndrome
  • Macrocephaly-Capillary Malformation
  • Meier-Gorlin Syndrome
  • Metatropic Dysplasia
  • Microcephalic Primordial Dwarfing Syndrome
  • Microdeletion 15q24 Syndrome
  • Microdeletion 22q11.2 Syndrome
  • Morquio Syndrome
  • Multiple Endocrine Neoplasia Type 2B
  • Peters'-Plus Syndorme
  • Pitt-Hopkins Syndrome
  • Pseudoachondroplasia
  • SHORT Syndrome
  • Stickler Syndrome
  • 3-M Syndrome
  • XXXY and XXXXY SDyndrome



  1. โ†‘ Tofts et al.. The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatric rheumatology online journal 2009. 7:1. PMID: 19123951. DOI. Full Text.
  2. โ†‘ Colombi et al.. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. American journal of medical genetics. Part C, Seminars in medical genetics 2015. 169C:6-22. PMID: 25821090. DOI.
  3. โ†‘ Kumar & Lenert. Joint Hypermobility Syndrome: Recognizing a Commonly Overlooked Cause of Chronic Pain. The American journal of medicine 2017. 130:640-647. PMID: 28286166. DOI.