Ehlers-Danlos/osteogenesis imperfecta syndrome

Orpha code: 230857OMIM code: 619120

Definicja

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
Klasyfikacja

Disease

Synonimy
EDS/OI syndrome
Zespół EDS/OI
Kod ORPHA
230857
Kod OMIM
619120
Kod ICD10
Q79.6
Kod ICD11
-

No additional description.

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