Silver Russell Syndrome
What is Silver Russell Syndrome
SRS is a very rare undergrowth condition affecting between 1 in 50,000 and 1 in 75,000 births each year and is characterised by slow growth during pregnancy and after birth. Following birth, babies with SRS will fail to gain wait at the normal rate (failure to thrive) and are likely to have a final height of around 151cm in males and 140cm in females.
In most families, only one child has the condition, but very occasionally more than one affected child is born into the same family.
Why does it occur?
The cause of SRS is not completely understood but it is thought that the genes controlling the regulation of growth on chromosome 7 and chromosome 11 are responsible. This is known to be the issue in around 60% of people affected by SRS, currently it is unclear what causes the SRS in the remaining 40%. Future research activity will aim to identify further causes
How is SRS diagnosed?
Genetic testing can identify the two known causes of SRS: 11p15 loss of methylation (also known as H19 mutation), and Maternal UniParental Disomy of chromosome 7 (MUPD7). It is thought that these two variations of SRS count for around 60% of children with SRS. For the remaining 40% a clinical diagnosis is gained through the identification of typical SRS characteristics.
Signs & Symptoms
Children with SRS are likely to encounter a number of symptoms, however, not every child will experience all of these and the severity of each will be different. Along with the short stature many children with SRS will have physical facial features, including a small triangular face and prominent forehead. There is likely to be body asymmetry, uneven growth in some parts of the body and scoliosis (curvature of the spine).
Other symptoms can include severe feeding difficulties and gastrointestinal problems (digestive issues) and children with SRS are likely to have reduced appetites and can develop ongoing issues with low blood sugar.
There is an increased risk of motor and speech and language development problems and psychosocial difficulties with possible links to autistic spectrum disorders.
Treatment & Support
The multiple medical problems connected to SRS means treatment be via a range of specialists and early intervention programmes. This might include medication to stimulate appetite, the use of a gastronomy tube for feeding, glucose infusions and daily growth hormone injections. There may also be the need for intervention plans from physiotherapists, speech therapists and corrective surgeries.
Please consider calling our helpline for support and advice, we can also help put you in touch with other families with the same condition. We also have members of our Facebook Group who may be able to help you.
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