Russell-Silver syndrome (or Silver-Russell syndrome) is a rare genetic disorder characterized by delayed growth in-utero (IUGR) that spares head growth (meaning the newborn has a head size that is large for his body) and ongoing postnatal growth failure. The true incidence is unknown but is estimated at 1 per every 35,000 – 100,000 live births.
Russell-Silver syndrome (or Silver-Russell syndrome) is a rare genetic disorder characterized by delayed growth in-utero (IUGR) that spares head growth (meaning the newborn has a head size that is large for his body) and ongoing postnatal growth failure. This disorder includes feeding difficulties and/or low BMI, dysmorphic features including a protruding forehead, and frequently body asymmetry (hemihypotrophy). The true incidence is unknown but is estimated at 1 per every 35,000 – 100,000 live births.
It was way back in 1953 and 1954 that Dr. Silver and Dr. Russell independently described groups of small-for-gestational-age [SGA] children whose pregnancies had been complicated by intrauterine growth restriction [IUGR]. Their common findings were short stature without catch-up growth, normal head size for age, a distinctive triangular face, low-set ears and incurving fifth fingers. These two groups of patients are now considered to have had variations of the same disorder that we now call Russell-Silver syndrome [RSS] in North America, and Silver-Russell syndrome [SRS] in Europe.
One interesting and important aspect of the Russell-Silver syndrome is its variation in phenotype. In this context, a phenotype is all the physical characteristics and abnormalities found in an individual patient that are attributed specifically to RSS. Some individuals with RSS have many traits, thus a severe phenotype, while others have very few traits, thus a mild phenotype.
When first described, RSS was NOT thought to be a genetic disorder because it recurred within families rarely, and when it did recur, its pattern of transmission failed to follow a consistent genetic mode of inheritance. More recent understandings of genetic mechanisms have led scientists to conclude that Russell-Silver syndrome is genetic, but its genetics are not simple. Scientists now know that the RSS phenotype is associated with more than one genotype.
A genotype is the status of a specific gene at a specific location on a specific chromosome. Therefore, an abnormal genotype means there has been a specific alteration, such as a deletion, duplication, insertion, substitution or imprinting error within the code of a specific gene located at a specific site in an individual’s genetic code.
Since our genotype is responsible for our phenotype, abnormal genotypes result in abnormal phenotypes. If we assume several genotypes for Russell-Silver syndrome, then we should not be surprised at a variety of phenotypes. We view this as one reason for the marked variability within the group of patients considered to have RSS. But deciding which child should be considered to have RSS is not always easy. When more is known about the genetics of Russell-Silver syndrome, we will find that some patients were incorrectly included while others were incorrectly excluded
In October 2016, the Russell-Silver Syndrome International Consensus Statement was published. This comprehensive document, written by 36 international specialists in Russell-Silver syndrome, includes all of the diagnosis and treatment care recommendations voted on and approved by these specialists. This is a “must have” document for every medical professional caring for an individual with RSS. This document may be difficult to read for many non-medical individuals, so we now have an abbreviated, condensed version rewritten in more layman language — the perfect solution for families and individuals managing RSS. Choose the condensed version (“Highlights and Summary”, perfect for families and individuals with RSS), the full-length version, or the Spanish version by clicking either option below.
Russell-Silver Syndrome International Consensus Statement – Condensed Version
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Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is an autosomal recessive genetic disorder, which means that it affects males and females in equal numbers, and that it requires both parents to pass on a gene in order for it to manifest as a disease. For a child to be born with any form of CAH, both parents must carry a gene for the disorder.
Growth Hormone Deficiency
Growth hormone (GH) is a protein made by the pituitary gland and released into the blood in brief pulses. The major way that GH promotes growth is by increasing levels of the hormone, insulin-like growth factor-1 (IGF-1), and its carrier protein, IGF binding protein-3 (IGFBP-3), in the blood.
Optic Nerve Hypoplasia
A child with the Syndrome of Optic Nerve Hypoplasia, also known as Septo Optic Dysplasia or DeMorsiers Syndrome, has under-developed optic nerves. The optic nerves carry messages from the eye to the brain. ONH is the single leading cause of blindness in infants and toddlers.
Russell Silver Syndrome
Russell-Silver syndrome (or Silver-Russell syndrome) is a rare genetic disorder characterized by delayed growth in-utero (IUGR) that spares head growth (meaning the newborn has a head size that is large for his body) and ongoing postnatal growth failure.
Small for Gestational Age
SGA (small for gestational age) generally describes any infant whose birth weight and/or birth length was less than the 3rd percentile, adjusted for prematurity (gestational age). Between 3% and 10% of live births each year are diagnosed as SGA.
Turner’s Syndrome occurs in 1 in 2,500 live female births. Approximately 98% of pregnancies with Turner’s Syndrome abort spontaneously and approximately 10% of fetuses from pregnancies that have spontaneously aborted have Turner’s Syndrome.
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We have created a Facebook page called Omkar’s Journey with Congenital Adrenal Hyperplasia to chronicle all possible events and scenarios in the life of a child with CAH, with a view to let new parents know what to expect.
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