How to Spot Symptoms of Russell-Silver Syndrome

Russell-SIlver Syndrome, also known as Silver Syndrome is a genetic disorder that is present from birth. The cause for most cases is unknown to health care professionals but about 7-10% of people with this disorder have a genetic defect called the maternal uniparental disomy (UPD). This defect is in the chromosome 7 and there usually isn't a family history of the syndrome.

Things You'll Need

• a doctor with expertise in diagnosing genetic conditions

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Instructions

How to Spot Symptoms of Russell-Silver Syndrome

• 1

  When a child is born, the first signs can include low birth weight and a distinct difference in the length of limbs on each side of the body.

• 2

  As the child develops, you may notice slower than average growth, short arms and legs and shorter height in general.

• 3

  Facial features include a normal head width, but the forehead is considerably wider than the chin, making the face appear triangular.

• 4

  The fingers and toes can also be affected. The pinkies may curve inward toward the ring finger and all fingers and toes are stubbier than average.

• 5

  Note the appearance of coffee colored marks on the skin.

• 6

  Internally, patients often have various kidney disorders, acid reflux, delayed bone aging and difficulty swallowing.

• 7

  Mentally, some patients have slower than average learning capacity.

• 8

  If you believe your child has Russell-Silver Syndrome, the doctor will do blood sugar, growth, bone and chromosome testing along with normal physical examination.