Ehlers-Danlos/osteogenesis imperfecta syndrome

Orpha code: 230857OMIM code: 619120

Definition

A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures.

Disease data
Classification

Disease

Synonyms
EDS/OI syndrome
Zespół EDS/OI
ORPHA code
230857
OMIM code
619120
ICD10 code
Q79.6
ICD11 code
-

No additional description.

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