Paula and Bobby
Parents of Lillie
Silver-Russell syndrome (SRS)
What is Silver-Russell syndrome (SRS)?
Silver-Russell syndrome is a rare genetic disorder characterized by limited growth both before and after birth known as intrauterine growth restriction. Babies born with the condition have a low weight at birth. It is often referred to as a congenital growth disorder.
Symptoms vary from mild to severe depending on the genetic mutations involved in each affected individual’s case.
What gene changes cause Silver-Russell syndrome (SRS)?
In 60-70% of cases the syndrome is caused by mutations in the gene (one) SRS2 on chromosome 7, and ICR1 and IGF2 in chromosome 11. But HMGA2 in chromosome 12 and PLAG1 in chromosome 8 have also been linked to Silver-Russell syndrome.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
In some instances the syndrome may be inherited in an autosomal dominant or autosomal recessive pattern.
Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Silver-Russell syndrome (SRS)?
The main symptoms of the syndrome are intrauterine growth restriction ( a low birth weight) and a failure to thrive once born.
Physical features of the syndrome include a large head in relation to the size of the body, a wide forehead, triangular face, small and narrow chin, curving of the pinky into the ring finger and cafe-au-lait coloured birthmarks. Facial and limb asymmetry are also common symptoms.
Motor and speech delay may also present with the syndrome depending on the severity of the case.
How does someone get tested for Silver-Russell syndrome (SRS)?
The initial testing for Silver-Russell syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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