Silver-Russell syndrome

Silver-Russell syndrome is a rare disorder that is characterized by slow growth before and after birth. 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. In some affected individuals, one side of the body may be bigger than the other.

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.

Other names

RSS; Russell-Silver syndrome; Silver-Russell dwarfism; SRS

Inheritance pattern

Autosomal dominant+New variant

Related genes

IGF2; CDKN1C; H19; PLAG1; HMGA2

Source: MedlinePlus Genetics, U.S. National Library of Medicine.