Kniest dysplasia

Kniest dysplasia
a rare autosomal dominant collagen disease caused by mutation in the COL2A1 gene (locus: 12q13.11-q13.2), which encodes type II collagen; characteristics include short stature with skeletal abnormalities such as kyphoscoliosis, depressed nasal bridge, cleft palate, and widening of the epiphyses; hearing loss and ocular defects are frequent.

Medical dictionary. 2011.

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