Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
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Babies with this condition typically have a low birth weight and often do not grow and gain weight at the expected rate (failure to thrive). Head growth is normal, however, so the head may appear large compared to the rest of the body. 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"The genetic causes of Silver-Russell syndrome are complex. The disorder is often the result of the abnormal regulation of genes that control growth. These genes are located in particular regions of chromosome 7 and chromosome 11.
Most cases of Silver-Russell syndrome are caused by changes in chromosome 11 that affect the regulation of specific genes. The genes that are thought to play the most significant role in Silver-Russell syndrome are the H19 and IGF2 genes. Disruption of the activity of these genes leads to slow growth and the other characteristic features of Silver-Russell syndrome.
When Silver-Russell syndrome is caused by problems that involve chromosome 7, it is primarily due to issues with the inheritance of the chromosome. Specifically, Silver-Russell syndrome can occur when both copies of chromosome 7 are derived from the egg cell. Normally, this does not affect gene activity, but some genes only work when they are derived from the egg cell or from the sperm cell. When both copies of chromosome 7 are derived from the egg cell, affected individuals may have two active copies of some genes and no active copies of other genes. This dysregulation of gene activity results in the signs and symptoms of Silver-Russell syndrome.
Rarely, variants (also called mutations) in a single gene cause Silver-Russell syndrome. These genes include the CDKN1C, IGF2, HMGA2, and PLAG-1 genes.
In 30 to 40 percent of people with Silver-Russell syndrome, the cause of the condition is unknown. Researchers are working to identify additional genetic changes that cause this disorder.
","key":"forms","title":"What causes Silver-Russell syndrome?"},{"bodyHtml":"Affected children often have difficulty feeding. Some children develop recurrent episodes of low blood glucose (hypoglycemia). Gastrointestinal problems, such as vomiting and a backflow of stomach acid into the esophagus (called gastroesophageal reflux or GERD), are also common.
Adults with Silver-Russell syndrome are typically shorter than average and may have an increased risk of developing metabolic problems such as type 2 diabetes (the most common form of diabetes). Affected individuals often have asymmetric or uneven growth of certain parts of the body, such as the arms and legs. Additional skeletal features may include an unusual curving of the fifth finger (clinodactyly), short fingers (brachydactyly), and abnormal curvature of the spine (scoliosis).
Many people with Silver-Russell syndrome have a small, triangular face with distinctive features, including a prominent forehead, a narrow chin, a small jaw, and downturned corners of the mouth.
Other features can include the delayed development of motor skills, speech and language problems, and learning disabilities.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"silver-russell-syndrome","sourceDocuments":[{"name":"Silver-Russell syndrome","reviewed":"2025-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:00.966294+00:00","label":"Causes","pageSha256":"e8af150bdbcdbafec884f41f82a03ea3b3bda761df3f62065afbfc542b3a84c6","sourceUrl":"https://medlineplus.gov/genetics/condition/silver-russell-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/silver-russell-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Silver-Russell syndrome"},"schemaVersion":1}