Trichorhinophalangeal Syndrome, Type Ii (TRPS2)

Trichorhinophalangeal Syndrome, Type Ii, also known as langer-giedion syndrome, is related to exostoses, multiple, type i and trichorhinophalangeal syndrome, and has symptoms including sparse scalp hair, thin upper lip and rounded nose. An important gene associated with Trichorhinophalangeal Syndrome, Type Ii is EXT1 (Exostosin Glycosyltransferase 1), and among its related pathways/superpathways are Type I collagen synthesis in the context of osteogenesis imperfecta and 11p11.2 copy number variation syndrome. Affiliated tissues include skin and bone, and related phenotypes are delayed skeletal maturation and short stature