Silver–Russell syndrome, also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism.
With appropriate medical care, most individuals with RSS will live full, productive lives. Growth and puberty: Almost all infants with RSS have a birth weight well below the 3rd percentile (<-2SD) even at full term. After birth, weight often continues to fall farther away from the normal range.
What causes Russell-Silver syndrome? Russell-Silver syndrome is a complicated disorder. Genetic abnormalities of certain genes that control growth have been found to cause the condition. Russell-Silver syndrome has been linked to a genetic change in chromosomes 7 or 11 in about 60% of people with the condition.
Abnormalities involving genes on chromosome 7 can also cause Russell-Silver syndrome. In 7 percent to 10 percent of cases, people inherit both copies of chromosome 7 from their mother instead of one copy from each parent.
Russell-Silver syndrome is also associated with an increased risk of delayed development, speech and language problems, and learning disabilities.
Babies with this condition typically have difficulty feeding and growing. Although adolescents and adults with Russell-Silver syndrome will be shorter than average, most people with RSS will live full, productive lives. Russell-Silver syndrome affects all genders and people of all ethnic backgrounds.
There is a wide degree of variability in cognitive and adaptive function in individuals with RSS. Learning disabilities and attention deficit disorders (ADD) appear to be increased in individuals with RSS.
Silver-Russell syndrome (SRS; OMIM 180860) and Beckwith-Wiedemann syndrome (BWS; OMIM 130650) are 2 clinically opposite growth-affecting congenital imprinting disorders.
Approximately half of children with the Silver-Russell syndrome have significant impairment of their cognitive abilities.
Despite the abnormalities in sexual development that may be associated with the Silver-Russell syndrome, fertility is not necessarily impaired, at least in females.
Silver-Russell syndrome-5 (SRS5) is characterized by intrauterine growth retardation, with feeding difficulties in early childhood and postnatal growth failure. Relative macrocephaly may be present at birth. Other dysmorphic features include triangular face with prominent forehead (De Crescenzo et al., 2015).
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short stature characterized by severe prenatal and postnatal growth retardation, feeding difficulties, body asymmetry, dysmorphic craniofacial features (triangular-shaped face, relative macrocephaly, ...
Silver-Russell syndrome is characterized by intrauterine and postnatal growth retardation leading to a small-for-gestational-age (SGA) infant at birth, feeding difficulties during infancy, short stature, body asymmetry, characteristic triangular facies with prominent forehead, and several other anomalies.
People with Marfan syndrome are often tall and thin, with very long arms, legs, fingers, and toes. People who might have Marfan syndrome should be evaluated to help reduce the risk of potential heart problems.
SRS may also occur as the result of a genetic alteration associated with up to a 50% recurrence risk (e.g., a copy number variant on chromosome 7 or 11 or an intragenic pathogenic variant in CDKN1C, IGF2, PLAG2, or HMGA2) depending on the nature of the genetic alteration and the sex of the transmitting parent.
A classic sign of Prader-Willi syndrome is a constant craving for food, resulting in rapid weight gain, starting around age 2 years. Constant hunger leads to eating often and consuming large portions. Unusual food-seeking behaviors, such as hoarding food, or eating frozen food or even garbage, may develop.
Diagnosis/testing.
Genetic testing confirms clinical diagnosis in approximately 60% of affected individuals. Hypomethylation of the imprinted control region 1 (ICR1) at 11p15. 5 causes SRS in 35%-50% of individuals, and maternal uniparental disomy (mUPD7) causes SRS in 7%-10% of individuals.
Silver–Russell syndrome (SRS), also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome (RSS), and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism.
There are recognizable features in individuals with this genetic disorder. Some are short stature, narrow chest, " facial features such as a prominent forehead, underdevelopment of the upper jaw, cheekbones and eye sockets (midface hypoplasia), and a squared-off jaw."
Description. Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing . Infants with this condition often have a high-pitched cry that sounds like that of a cat.
Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl.
Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age.3-5However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women ...
Insufficient nutrition & low blood sugar damage the developing brain and compound the growth failure. However, due to the increased risks for insulin resistance and related health issues, it is important that an RSS child remain lean, typically with a BMI below 14.