Ehlers-Danlos/osteogenesis imperfecta syndrome

Ehlers-Danlos/osteogenesis imperfecta syndrome is a rare condition that shows features from both Ehlers-Danlos syndrome (EDS) and osteogenesis imperfecta (OI). People with this condition may have very flexible joints, skin that stretches more than usual and can appear translucent, and a tendency to bruise easily. In addition, they may show signs typical of mild osteogenesis imperfecta, such as short stature, blue colored whites of the eyes, and bones that are more fragile or have lower density.

Common signs of this condition include generalized joint hypermobility, dislocations, skin hyperextensibility or translucency, and easy bruising. Mild features of osteogenesis imperfecta, such as short stature, blue sclera, and osteopenia or fractures, are also seen.

Ehlers-Danlos/osteogenesis imperfecta syndrome is described as an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta. The specific causes and genetic mechanisms behind this combined presentation remain unclear, and no particular gene has been identified as the cause.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.