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
Resources
References
- 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.
- 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.
- 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.
