- by Dr Varsha Saxena
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- Mar 22 2018
Beckwith-Wiedemann Syndrome: A Genetic Disorder
It is a growth disorder that causes large body size, large organs, and other symptoms. It is a congenital condition, which means it is present at birth. Growth begins to slow by about age 8, and adults with the condition are not usually tall. Infancy can be the critical period for babies with this condition because of the possibility of:
- Low blood sugar
- A type of a hernia called an omphalocele
- An enlarged tongue
- An increasing rate of tumour growth.
It is caused by a defect in the genes on chromosome 11. About 10% of cases can be passed down through families. People normally inherit one copy of this chromosome from each parent. At least half of all cases result from changes in a process called methylation. About 20% of cases of BWS is caused by a genetic change known as paternal uniparental disomy (UPD).
- Large size for a newborn
- Red birthmark on forehead or eyelids
- Creases in ear lobes
- Large tongue (macroglossia)
- Low blood sugar
- Abdominal wall defect
- Enlargement of some organs
- Overgrowth of one side of the body
- Tumor growth, such as Wilms Tumors and hepatoblastomas
A physical exam is done to look for signs and symptoms of Beckwith-Wiedemann syndrome. Tests for the disorder include,
- Blood test for low blood sugar
- Chromosomal studies for abnormalities in chromosome 11
- Ultrasound of the abdomen
Infants with low blood sugar may be treated with fluids given through a vein. Surgery may be needed if the enlarged tongue makes it hard to breathe or eat. Tumour screening is done which includes blood tests and abdominal ultrasounds.
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