Beckwith-Wiedemann Syndrome is a very rare condition that is associated with a large body size (macrosomia), large tongue (macroglossia), omphalocele (a type of umbilical hernia), small head (microcephaly), and large body organs (visceromegaly), especially the kidneys and pancreas. Newborns with this condition can also have low blood sugars (hypoglycemia) and high red blood cell counts (polycythemia). Some children will have unusual fissures or creases in their earlobes.
Please note that most large babies that have problems with low blood sugar will not have Beckwith-Wiedemann syndrome. The low blood sugar secondary to this syndrome is persistent and difficult to treat.
Treatment of Beckwith-Wiedemann syndrome includes aggressive treatment of the hypoglycemia. Children should also be regularly monitored for the formation of Wilms tumor and hepatoblastoma, two types of tumors that they are at increased risk of developing. Monitoring is done by checking a blood alpha-fetoprotein level (AFP), liver ultrasound and abdominal ultrasound every 6-12 weeks until the patient is eight years old (up to 3 years old for the AFP checks). Doing the screening tests more than every four months may delay the finding of these fast growing tumors. Another treatment can be a partial glossectomy to surgically reduce the size of the tongue.
Beckwith Wiedemann Internet Resources: