Contributor: Gordon K. Klintworth
Silver-Russell dwarfism (Silver-Russell syndrome, Russell-Silver syndrome, Russell dwarfism, OMIM #180860) is an inherited form of dwarfism that is characterized by lateral asymmetry and a low-birth weight despite a normal length of gestation. Other features of the syndrome include clinodactyly, café au lait spots, syndactyly, a triangular face, downturned corners of the mouth and precocious puberty. Affected individuals have a slight to moderate increase in the excretion of gonadotropins. The responsible gene has been mapped to human chromosome 7(7p11.2) and many cases (~10%) are associated with maternal uniparental disomy of chromosome 7.