Disease association ontology term - MONDO:0012873 - Ehlers-Danlos syndrome, spondylocheirodysplastic type
Term summary
- ID
- MONDO:0012873
- Name
- Ehlers-Danlos syndrome, spondylocheirodysplastic type
- Ontology or CV name
- Disease association
- 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.
