A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.
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Stickler syndrome type 1
MONDO:0007160
multiple epiphyseal dysplasia, Beighton type
MONDO:0007562
platyspondylic dysplasia, Torrance type
MONDO:0007895
Kniest dysplasia
MONDO:0007987
spondyloepiphyseal dysplasia congenita
MONDO:0008471
spondyloepimetaphyseal dysplasia, Strudwick type
MONDO:0008476