Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large  Read More

Spondyloepimetaphyseal dysplasias (SEMD) are a heterogeneous group of chondrodysplasias, characterized by different patterns of inheritance. Different subtypes of SEMD are reported in genetic medical databases and literature. The Smith-McCort variant syndrome (SMS) or smith-mccort dysplasia is one of the subtypes of SEMD (subtype II). 1. SMS is a rare autosomal recessive osteochondrodysplasia characterized by shor  Read More