Also known as: Beckwith-Wiedemann syndrome
What is Beckwith-Wiedemann syndrome?
Beckwith-Wiedemann Syndrome was described first in 1963 by Dr. Bruce Beckwith, a pathologist, and then by Dr. Hans Rudolph Wiedemann, a German Geneticist in 1964. These physicians identified children who had body overgrowth, omphalocele, macroglossia, and hypoglycemia. Children who had these findings occurring together were described as having Beckwith-Wiedemann Syndrome. Approximately 1 in 13,700 people have Beckwith-Wiedemann Syndrome.
Common clinical characteristics of Beckwith Wiedemann are:
- Macroglossia (large tongue)
- Macrosomia (large body size) and/or Hemihypertrophy (one side of body is bigger than the other side)
- Neonatal hypoglycemia (low blood sugar as newborn babies)
- Increased risk for certain types of tumors such as Wilms tumor (kidney tumor) and hepatoblastoma (liver tumor)
- Omphalocele (born with intestines on the outside of the body) or umbilical hernia
- Crease or pits on the ears
- Normal Intelligence
What causes Beckwith-Wiedemann?
Beckwith-Wiedemann is caused by changes in activity of genes that either suppress or promote growth of cells in an individual’s body. These genes are on chromosome 11. In body cells, each person has 46 chromosomes that come in 23 pairs. Therefore, each person has two copies of every chromosome, one copy that is inherited from a person’s mother and the other from a person’s father. Genes are housed on the chromosomes. There are many genes on each chromosome. Because chromosomes come in pairs, genes also come in pairs. Like chromosomes, a person inherits one of every gene from their mother and one of every gene from their father. For most genes, the genes inherited from both parents are active (“turned on”). However, in Beckwith Wiedemann, some genes are only active on the chromosome 11 inherited from one’s father and others are only active on the chromosome 11 inherited from a person’s mother. There are several ways that the way these genes are expressed can be changed and result in Beckwith-Wiedemann Syndrome. Special testing and evaluation with a Geneticist is necessary to determine the way the expression of theses genes is changed in an individual. Most individuals with Beckwith-Wiedemann are the first affected in the family and the risk for recurrence is low. However, in those individuals with a family history, the risk can be as high as 50%.
What is the prognosis for my child with Beckwith-Wiedemann?
With proper management, the prognosis for most children with this condition is positive. With careful monitoring for tumor development through ultrasound and serum alpha-fetoprotein, as well as necessary evaluation for any additional findings, these children will attend school, have friends, and most of all enjoy life. With close follow-up by a craniofacial team and/or clinical geneticist, these children can grow to healthy and happy adults.