Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, difficulty in feeding, failure to thrive, poor growth, short stature, and asymmetry in size of the two halves or parts of the body. Disease onset is usually in early childhood and the patients appear to have triangular face with broad forehead, small pointed chin, and thin wide mouth. Shortness and/or clinodactyly of the fifth fingers are common findings. Patients may be slow to learn motor skills. To achieve optimal nutrition, a feeding tube may be helpful. Also, growth hormone therapy can enhance the growth process. Incidence ranges from 1 in 3,000 to 1 in 100,000 worldwide and more than 500 cases have been reported with equal male-to-female ratio.
Silver-Russell Syndrome occurs mostly due to epigenetic changes at the ICR1 region on chromosome 11. A genetic defect in chromosome 7 (maternal uniparental disomy of chromosome 7) has also been identified in about 10% of the patients.