spondylometaphyseal dysplasia, Golden type https://www.malacards.org/card/spondylometaphyseal_dysplasia_x_linked_2 spondylometaphyseal dysplasia X-linked Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base. X-linked spondylometaphyseal dysplasia UMLS:C0796172 icd11.foundation:840695879 MONDO:0010738 MEDGEN:208672 GARD:0008343 spondylometaphyseal dysplasia Richmond type OMIM:313420 MESH:C563124 Orphanet:168544 spondylometaphyseal dysplasia