Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type (SEMD-SL)

Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type, also known as spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, is related to osteochondrodysplasia and achondroplasia. An important gene associated with Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type is DDR2 (Discoidin Domain Receptor Tyrosine Kinase 2), and among its related pathways/superpathways are Extracellular matrix organization and G-protein signaling RAC1 in cellular process. Affiliated tissues include bone and trachea, and related phenotypes are depressed nasal ridge and platyspondyly