spondyloperipheral dysplasia
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.
MONDO:0022800
type 2 collagenopathy
is_a
MONDO:0100602
COL2A1-related spondyloepiphyseal dysplasia
is_a
spondyloperipheral dysplasia
exact
spondyloperipheral dysplasia-short ulna syndrome
exact