Kniest dysplasia

MONDO:0007987

A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones.

Also known as: Kniest dysplasia

1 clinical trial for this condition and its sub-types, 0 tagged with Kniest dysplasia itself.

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Where it sits in the disease tree

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Part of

↑ Osteochondrodysplasia (380) ↑ Type 2 collagenopathy (39) ↑ Spondylometaphyseal dysplasia (0)

Including sub-types (1) Tagged with Kniest dysplasia (0)

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