Scientists at the University of California, Los Angeles in the USA have identified a genetic mutation responsible for rare disorders responsible for both stunted growth and fast growth in children. The same genetic mutation is the cause of two growth development disorders, IMAGe syndrome where growth is restricted in the womb and leads to slow growth and adrenal insufficiences; and Beckwith-Wiedemann syndrome, a condition leading to overgrowth of children from birth onwards and is usually associated with cancer.
The researchers hope that the discovery of this gene could be used to prevent rapid and uncontrolled cell division in tumours. They also propose to use genetic screening to “…diagnose children early enough for them to benefit from medical intervention.”
Children suffering from both IMAGe syndrome and Beckwith-Wiedemann syndrome have a short life expectancy for opposing reasons; as such, the researchers are surprised to find that the same gene is responsible for both conditions. The finding has been the culmination of twenty years of research and provides hope for families with this genetic mutation in their inheritance.
Dr Rakesh Amin, Consultant Paediatric Endocrinologist has written advice for parents who think their child may be experiencing stunted growth in the form of familial short stature or Growth Hormone Deficiency, or for children with a tall stature who may have a chromosomal abnormality such as Marfan’s or Soto’s syndrome.