has material basis in germline mutation in SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome, spondylocheirodysplastic type https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/ehlers_danlos_syndrome_spondylodysplastic_type_3 DOID:0080739 UMLS:C2676510 SCD-EDS EDS, spondylocheirodysplastic type icd11.foundation:1653521697 GARD:0012610 Ehlers-Danlos syndrome, spondylodysplastic type, 3 OMIM:612350 MONDO:0012873 EDSSPD3 spondylocheirodysplasia, Ehlers-Danlos syndrome-like MEDGEN:393515 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. Orphanet:157965 MESH:C567340 spondyloepiphyseal dysplasia