Ehlers-Danlos syndrome, spondylocheirodysplastic type
Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.
MONDO:0007526
Ehlers-Danlos syndrome, spondylodysplastic type
is_a
MONDO:0016761
spondyloepiphyseal dysplasia
is_a
EDS, spondylocheirodysplastic type
exact
EDSSPD3
related
SPAP8A3.03