SNP Shot: Genomic Insights

Russell-Silver syndrome is a condition affecting growth, resulting in reduced growth rates both before and after birth. Infants with this syndrome typically have a low birth weight and experience difficulties in growing and gaining weight at the expected pace, a condition known as failure to thrive. While head growth is generally normal, it may appear disproportionately large compared to the rest of the body. Individuals with Russell-Silver syndrome tend to be thin, have poor appetites, and may experience recurrent episodes of low blood sugar (hypoglycemia) due to feeding challenges. Adults with this condition are typically short in stature, with average heights of about 151 cm (4'11") for men and 140 cm (4'7") for women.

Individuals with Russell-Silver syndrome often have a small, triangular face characterized by a prominent forehead, narrow chin, small jaw, and downturned mouth corners. Other possible features include a curved fifth finger (clinodactyly), asymmetric growth in different body parts, and digestive system issues. Additionally, Russell-Silver syndrome is linked to a higher likelihood of developmental delays, speech and language impairments, and learning disabilities.

Inheritance:

In most instances, Russell-Silver syndrome occurs randomly in individuals without a family history of the condition. However, in rare cases, it can be inherited. Some families display an autosomal dominant inheritance pattern, where only one altered copy of a gene in each cell is enough to cause the syndrome. In other families, the inheritance pattern appears autosomal recessive, requiring both copies of a gene to be altered in each cell for the condition to manifest. In this recessive pattern, the parents of an affected individual each carry one copy of the altered gene but usually do not exhibit any symptoms of the condition themselves.