Skip to main content

Table 3 Disorders predisposing to bone fragility which can be associated with joint hypermobility Munns and Sillence[11].

From: The differential diagnosis of children with joint hypermobility: a review of the literature

Type Inheritance Discriminatory features Other features Laboratory
Osteogenesis imperfecta type I AD Blue sclera
Hypermobility, especially of small joints
Wormian bones (70% of subjects)
Generalised osteopenia on DEXA
Kyphoscoliosis
Arcus cornea
Hearing impairment
Metatarsus varus
Easy bruising
Fractures from minimal trauma
Opalescent dentine
Reduction in synthesis of type I procollagen
Abnormalities in COL1A1
Osteogenesis imperfecta type I with opalescent dentine AD As above with opalescent dentine   
Osteogenesis imperfecta type IV AD White sclera
Fractures from minimal trauma
Short stature
Wormian bones in 50–70%
Progressive long bone deformity
Joint hypermobility
COL1A1 or COL1A2 mutations which reduce collagen stability.
Osteogenesis imperfecta type IV with opalescent dentine AD As above with opalescent dentine   
Geroderma osteodysplasticum AR Osteopenia
Platyspondyly
Learning disability
Joint hypermobility
Skin hyperelasticity
Wormian bones  
  1. Items in bold are distinguishing features of that particular subtype of OI