has material basis in germline mutation in SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type Ehlers-Danlos syndrome, spondylodysplastic type, 3 https://github.com/monarch-initiative/mondo/issues/10121 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/ehlers_danlos_syndrome_spondylodysplastic_type_3 Ehlers-Danlos syndrome, spondylodysplastic type, 3 DOID:0080739 SLC39A13-related spEDS SCD-EDS UMLS:C2676510 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome icd11.foundation:1653521697 GARD:0012610 OMIM:612350 MONDO:0012873 MEDGEN:393515 EDSSPD3 spondylocheirodysplastic Ehlers-Danlos syndrome spEDS-SLC39A13 A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. SLC39A13-related spondylodysplastic EDS Orphanet:157965 MESH:C567340 spondyloepiphyseal dysplasia