Many parts of the body are affected by Beckwith-Wiedemann syndrome. Infants affected with this syndrome are considerably larger than normal. Technically, it is referred to as macrosomia. Beckwith-Wiedemann is classified as an overgrowth syndrome. Children who are diagnosed with this syndrome continue to grow and gain weight at an unusual rate during childhood. By the time these children reach the age of eight years, their growth begins to slow down. As they reach adulthood, their height should be comparable to other adults. Occasionally, a child with Beckwith-Wiedemann syndrome will have a body part grow abnormally large. This unusual growth pattern leads to an asymmetric or uneven appearance and is known as hemihyperplasia.
While only one in every 12,000 infants is diagnosed with Beckwith-Wiedemann syndrome, doctors feel that it may be more common. It is likely that children with mild symptoms are never diagnosed. One in five infants diagnosed with the syndrome dies quite young from complications related to the disorder. It appears that about 85 percent of the time the syndrome is not inherited. However, about 15 percent of cases have several family members with the syndrome indicating an autosomal dominant pattern of inheritance.
Abdominal abnormalities are common with this disorder, although they vary. Some infants are born with an opening in the wall of the abdomen that is called an omphalocele. The omphalocele allows organs in the abdomen to protrude through the navel. Other infants with this condition may be born with an umbilical hernia. Others may have abnormally large abdominal organs, which is called visceromegaly.
An abnormally large tongue that can interfere with breathing, swallowing, and speaking is common among children diagnosed with this syndrome. Creases or pits in the skin near the ears, hypoglycemia during infancy, and kidney abnormalities are also symptoms of this syndrome. About 10 percent of these children will develop tumor that may be either cancerous or non-cancerous. Often associated with the syndrome is rare form of kidney cancer called Wilms tumor, a cancer of muscle tissue called rhabdomyosarcoma, and a form of liver cancer called hepatoblastoma.
A friend of mine has an adopted daughter with this disorder. At the age of eight, she was wearing a size nine shoe, and womens size 12 clothing. At 13, she is larger than many women, including her adoptive mother. Luckily, she is very soft spoken and gentle so her peers haven’t ostracized her.
Photo Credit Julia Fuller 2007