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Ehlers-Danlos/osteogenesis imperfecta syndrome

Synonym(s) EDS/OI syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Infancy
  • Q79.6
MeSH -
MedDRA -


Disease definition

Ehlers-Danlos/osteogenesis imperfecta syndrome is an association of the features of Ehlers-Danlos syndrome and osteogenesis imperfecta, characterized by generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, and easy bruising as the predominant clinical features, while being invariably associated with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.

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