Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood

Silver Russell syndrome (SRS) is a rare disorder affecting growth and behaviour, caused by faults in the biological control of growth factors vital to early development. We studied the medical history of 33 older people with SRS.
60% had significantly reduced height, though 70% had received treatment; this suggests a need for improved intervention. In those 18 years and older, one quarter either had an increased risk of diabetes or had developed it, one third had high blood pressure and half had raised cholesterol.  This shows that further investigation of metabolic health is warranted.  Even so, the group had normal educational achievement and quality of life, in many cases including fertility. (By Dr. Karen Temple, https://jmg.bmj.com/content/early/2020/02/13/jmedgenet-2019-106561 )

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