Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 (EDSSPD3)

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3, also known as spondylocheirodysplasia, ehlers-danlos syndrome-like, is related to ehlers-danlos syndrome and down syndrome, and has symptoms including waddling gait and joint laxity (elbow). An important gene associated with Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 is SLC39A13 (Solute Carrier Family 39 Member 13), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Nuclear receptors meta-pathway. Affiliated tissues include skin and eye, and related phenotypes are failure to thrive and skeletal dysplasia.