What is russell silver syndrome?
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Russell-Silver Syndrome is a very rare genetic disorder characterized by growth delays before birth (prenatal or intrauterine growth retardation); overgrowth of one side of the body (hemihypertrophy or asymmetry); unusual characteristic facial features; and other physical abnormalities. Growth delays before birth affect both weight and linear growth. As a result, although carried to full term (normal gestational age), affected infants may be abnormally small and have low birth weight. In addition, growth delays and immature bone development (growth retardation and delayed bone age) continue after birth (postnatally). As a result, affected children may exhibit short stature and may be unusually small and thin for their age. In most cases (65 to 80 percent), asymmetry or overgrowth of one side of the body is obvious at birth. Asymmetry may affect the head, trunk, arms, and/or legs. The extent and severity of asymmetry vary greatly among affected children. Characteristic facial features may include a triangular-shaped face with a small, pointed chin; an abnormally prominent forehead (frontal bossing); bluish discoloration of the tough, outer membranes covering the eyeballs (blue sclera); an unusually small, wide mouth; downturned corners of the mouth; and/or an abnormally small jaw (micrognathia). The range and severity of symptoms associated with Russell-Silver Syndrome vary greatly from case to case.
Other physical findings associated with this disorder may include permanent fixation of the fifth fingers in a bent position (clinodactyly); webbing of the second and third toes (syndactyly); underdevelopment (hypoplasia) of certain bones of the fingers (phalanges); development of smooth, coffee-colored patches on the skin (cafe-au-lait spots); and/or abnormalities of the kidney and urinary tract.
Most cases of Russell-Silver Syndrome are the result of new genetic changes (mutations) that occur randomly for no apparent reason (sporadic). If this mutation were to be inherited, it would do so as an autosomal dominant genetic trait. In rare cases, it is thought that the disorder may be inherited as an autosomal recessive genetic trait. In addition, a rare form of Russell-Silver Syndrome is thought to be inherited as an X-linked dominant genetic trait.
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