Russell-Silver syndrome is a growth disorder that a person is born with. Some alternative names for this disorder are Silver syndrome and Silver-Russell syndrome. It is mainly associated with a low weight at birth, a difference between the lengths of a person’s arms and legs, slow growth, and a short stature. Other symptoms may be present at birth or may develop during childhood.
There are a few different causes of Russell-Silver syndrome. In up to 10% of cases, a genetic defect called maternal uniparental disomy (UPD) occurs, in which an extra chromosome 7 is inherited from a person’s mother. When this happens, a person does not receive a copy of the chromosome on the father’s side. Any abnormalities that occur during a normal inheritance of chromosome 7 — one from the mother and one from the father — can also result in this disorder.
Methylation is responsible for attaching molecules to certain parts of a person’s DNA. In many Russell-Silver syndrome cases, this chemical reaction is disturbed, causing a disruption in gene regulation. This can cause a person to grow more slowly and to develop other characteristics that are often associated with this disorder. Almost half of the known cases of Russell-Silver syndrome are not associated with these causes. Many times, the specific reason for the growth disorder is unknown.
There are many different symptoms that are characteristic of this syndrome. Most problems are diagnosed soon after birth or when a child is young. Symptoms may include fingers and toes that are short and stubby, short legs and arms, a wide forehead, problems with the kidneys, lack of appetite, an inability to thrive, a curved fifth finger, and a triangular-shaped face. A child born with the disorder may have a normal-sized head, but it will usually look abnormal compared to his small body.
Doctors that specialize in genetics may play a helpful role in diagnosing and treating Russell-Silver syndrome. A child may also need to see a psychologist to help with self-esteem issues. Nutritionists can be used to assist in planning meals that will appeal to the child. The specific diet that a nutritionist recommends will most likely be one that can enhance growth. Endocrinologists may also prescribe hormone replacements or growth hormones if the child needs them.
This syndrome is often associated with problems in development and learning disabilities. Other problems that may occur are trouble speaking and chewing due to a small jaw. Young children that suffer from this condition are more likely to show signs and symptoms of the disorder.