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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.
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incidence of this disease is uncertain yet. Some
say - The incidence are quite high, eg in the US
alone 1:100 babies are born with it !!! |
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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