Russell-Silver syndrome

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Russell-Silver syndrome

Alternative Names:

Silver-Russell syndrome; Silver syndrome
Symptoms:

low birth weight
poor growth during infancy and childhood
proportionally short stature with normal skeleton and frequently delayed bone age
normal head circumfrence, often with the appearance of "pseudohydrocephalus"
typical facial characteristics include a broad, prominent forehead with small triangular face and small, narrow chin
limbs of differing lengths
fifth finger clinodactyly (curving of the pinky toward the ring finger)
brachydactyly (short, stubby fingers and toes)
cafe-au-lait (coffee with milk) colored spots
arm span less than height (short arms)

Signs and tests:

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The following genitourinary problems may be present:

Hypospadias (abnormality where the urethra exits the body underneath the penis, rather than at the tip) and cryptorchidism (undescended testes)
Kidney anomalies, such as:
- hydronephrosis
- renal tubular acidosis
- posterior urethral valves
- horseshoe kidney

The following gastrointestinal disorders may be present:

Gasroesophageal reflux disease
Esophagitis
Food aversion
Failure to thrive

There are no specific laboratory tests for the diagnosis of Russell-Silver syndrome.

Tests may be performed as follows:

Blood sugar
Growth hormone
Skeletal survey, to exclude skeletal dysplasia, which may mimic Russell-Silver syndrome
tests to determine chromosome abnormalities
test to determine if bone age is delayed

It is estimated that 7-10% of patients with RSS have a defective gene (maternal uniparental disomy for chromosome 7). The great majority of patients with RSS to date have no identifiable cause for their diagnosis.