What is the Russell-Silver syndrome?

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.

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What is the life expectancy of someone with Russell-Silver syndrome?

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.

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What is the cause of Russell-Silver syndrome?

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.

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What are the symptoms of Russell-Silver?

Symptoms can include:
  • Birthmarks that are the color of coffee with milk (cafe-au-lait marks)
  • Large head for body size, wide projecting forehead with a small triangle-shaped face and small, narrow chin.
  • Curving of the pinky toward the ring finger.
  • Failure to thrive, including delayed bone age.
  • Low birth weight.

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Is Russell-Silver syndrome inherited from mother or father?

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.

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What is Silver-Russell Syndrome (SRS)?

26 related questions found

What are the long term effects of Russell-Silver syndrome?

Russell-Silver syndrome is also associated with an increased risk of delayed development, speech and language problems, and learning disabilities.

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Do kids grow out of Russell-Silver syndrome?

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.

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Does Russell-Silver syndrome affect learning?

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.

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What is the opposite of Russell-Silver syndrome?

Silver-Russell syndrome (SRS; OMIM 180860) and Beckwith-Wiedemann syndrome (BWS; OMIM 130650) are 2 clinically opposite growth-affecting congenital imprinting disorders.

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Does Russell-Silver syndrome affect intelligence?

Approximately half of children with the Silver-Russell syndrome have significant impairment of their cognitive abilities.

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Does Russell-Silver syndrome affect fertility?

Despite the abnormalities in sexual development that may be associated with the Silver-Russell syndrome, fertility is not necessarily impaired, at least in females.

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What is Russell-Silver syndrome type 5?

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).

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Is Russell-Silver syndrome caused by maternal UPD of chromosome 7?

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, ...

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What are the facial features of Russell-Silver syndrome adults?

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.

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What is the skinny genetic disorder?

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.

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What is the recurrence risk of Silver-Russell syndrome?

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.

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What is the rare disease that makes you gain weight?

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.

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How do you test for Russell-Silver syndrome?

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.

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What is the other name for Russell-Silver syndrome?

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.

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What are dwarf like facial features?

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."

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What is 5th chromosome disorder?

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.

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What is ring chromosome 5 syndrome?

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.

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Which woman is at highest risk of conceiving a child with Down syndrome?

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 ...

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What is the BMI for Russell-Silver syndrome?

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.

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