NeurometPlus

Incidence

RSS occurs in all ethnicities and equally affects both males and females. The incidence of RSS is uncertain, but it has been estimated to range from 1 in 3000 to 1 in 100,000 births. Most cases of RSS are sporadic meaning that the child is the only family member affected with the disorder. RSS can be inherited in an autosomal dominant or autosomal recessive manner. Some cases of RSS are due to abnormalities of chromosome 7. Many cases of RSS have an unknown cause.

Clinical Characteristics

Russell-Silver syndrome (RSS) is a rare genetic disorder that is characterized by short stature and body asymmetry. Stomach and intestine problems, learning disabilities, and developmental delay are also common. RSS is present from birth. Each child does not have all of the following symptoms. During pregnancy, the fetus is small. At birth, the newborn is small with a low birthweight. Infants may have low blood sugar levels (hypoglycemia). They have a poor appetite during the first few years of life and the child continues to be short. The average male adult height is 4 feet 11 inches. The average female adult height is 4 feet 6 inches. Their muscles may be weak. One side of the body is usually smaller than the other side. They may have abnormal fingers and toes. There can be birth marks on the skin (cafe-au-lait spots). Children have certain facial features, such as a small, triangular-shaped face because the forehead is broad and the chin is small and pointed. They may have a long, narrow head at birth, a thin upper lip, small teeth, bluish tint to the whites of the eyes, or ears that are low on the head. Children may have a high-pitched voice, which disappears as the child gets older. They can have developmental delays and learning disabilities. They can have heart, kidney, or genitalia problems. A child with RSS typically lives a normal life, although the early years are often the most difficult because of developmental delays, learning disabilities, and poor eating habits. Over time, the appearance of the triangular-shaped face becomes less noticeable, muscles get stronger, appetite improves, and motor coordination develops. Speech becomes clearer and learning improves. Thus, children with RSS tend to grow up to become adults with few physical and developmental problems.

Precipitants

None

Provocation Tests

None

Diagnostic Procedures

It is a clinical diagnosis. The diagnosis of RSS is made based on the above signs and symptoms. An X-ray of the hand (bone age) may show that the child's growth and development of the bones is slower than that of other children.