Srps

Short Rib Polydactyly Syndrome is a description for a lethal category of bone growth disorders known as skeletal dysplasias or, more commonly, dwarfism. SRPS is generally characterized by short ribs, a bell-shaped torso, and short measurements of the long bones (femur and humerus). However, not all cases of SRPS demonstrate polydactyly, the presenc... e of extra fingers and toes. All forms of SRPS are lethal to newborns. Four distinct forms of SRPS have been established, although features and symptoms frequently overlap. SRPS is also closely associated with Asphyxiating Thoracic Dysplasia (Jeune's Syndrome) and Chondroectodermal Dyplasia (Ellis-Van Creveld Dysplasia). The four types of SRPS are: Type I, Saldino-Noonan Type II, Majewski Type III, Verma-Naumoff Type IV, Beemer-Langer Researchers have yet to identify the gene mutation or mutations that cause SRPS.Read More