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