Beckwith-Wiedemann Syndrome is an extremely rare disease that most have never heard of and fortunately have never had to deal with. Signs of Beckwith-Wiedemann Syndrome are; Hypoglycemia (low blood sugar) Enlarged kidneys, liver and spleen, large fontanel (soft spot), metopic ridge which is a ridge in the forehead caused by premature closure of the cranial suture, early bone maturation and accelerated growth.
Affected children are often large at birth. Many have abdominal wall defects such as umbilical hernia. They have characteristic facial appearance with a gaping mouth and large tongue. My niece has this disease and she has had to go through several surgeries starting at infancy to reduce the size of her tongue. They can also have protruding large prominent eyes, creases in ear lobes and enlargement of some organs and tissues.
Infancy can be a critical period because of low blood sugar, omphalocele and an increased rate of tumor development, Wilm’s Tumor and Adrenal Carcinoma being most common. The tests for Beckwith-Wiedemann Syndrome are bone x-ray of the long bones, blood tests to test for low sugar or other abnormalities, ultrasound of the abdomen, MRI scan of the abdomen or CT scan of the abdomen, chromosome studies for abnormalities in the Chromosome 11.
Intravenous solutions may be used for treating Hypoglycemia in infancy. Defects of the abdominal wall may need to be repaired. Enlargement of the tongue can cause feeding and sleeping problems so surgery to reduce the size must be done. In addition affected children must be followed carefully for appearance of tumors.
The cause of Beckwith-Wiedemann Syndrome is unknown but appears to be genetic. Some cases may be associated with a defect in Chromosome 11.
Children who survive infancy do well although there is no long term follow-up information that I could find I do know my niece is now 17 years old. Her Mother was told she would be extremely lucky to make it to 12 she has surpassed the odds. This disease also makes them prone to seizures which is a very scary experience.
There is no known prevention for Beckwith-Wiedemann Syndrome at this time. With proper care and treatment my niece proves those with Beckwith-Wiedemann Syndrome can live a long and happy life. They also have some mental health problems and are slow learners but those with this disease can live a happy and productive life and bring lots of love and joy to their family and friends if proper care and treatment is followed.