Ehlers-Danlos syndrome, spondylocheirodysplastic type
Ehlers-Danlos syndrome, spondylocheirodysplastic type
Definition
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.
Also known as EDS, spondylocheirodysplastic type — per MONDO