Russell-Silver Syndrome

Russell-Silver Syndrome

Russell-Silver Syndrome is a very rare genetic disorder. Most cases of Russell-Silver Syndrome are the result of new genetic changes (mutations) that occur randomly for no apparent reason. A rare form of Russell-Silver Syndrome is thought to be inherited as an X-linked dominant genetic trait.

The incidence of this disease is uncertain yet. The estimated number of people who develop this condition varies greatly. Some say it affects about 1 in 3,000 people. Other reports say it affects 1 in 100,000 people. Males and females are equally affected.

Some features seen in this syndrome : -

  • Growth delays, which starts before birth ( intrauterine growth retardation)
  • Overgrowth of one side of the body (hemihypertrophy or asymmetry)
  • Unusual characteristic facial features.
  • Affected infants may be low birth weight. Growth delays and immature bone development continue after birth.
  • Asymmetry or overgrowth of one side of the body is obvious at birth. Asymmetry may affect the head, trunk, arms, and/or legs.
  • Characteristic facial features may include a triangular-shaped face with a small, pointed chin; an abnormally prominent forehead (frontal bossing)
  • Precocious sexual development, Cryptorchidism
  • Bluish discoloration of the outer membranes covering the eyeballs (blue sclera)
  • Unusually small, wide mouth; downturned corners of the mouth; and/or an abnormally small jaw .
  • Permanent fixation of the fifth fingers in a bent position. webbing of the second and third toes. Vertebral abnormalities, Absent sacrum, Absent coccyx
  • Coffee-colored patches on the skin (cafe-au-lait spots)
  • Abnormalities of the kidney and urinary tract.
  • Hepatocellular carcinoma
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