- HCM: the disease
- How to screen for HCM
- Treatment Options
- HCM: Genetics
- Is a Cure Available?
- After a Loss
- HCM Spectrum Disorders
- Beckwith-Wiedemann (B-W) Syndrome
- Carnitine Deficiency
- Costello's Syndrome
- Danon Disease
- Fabry's Disease
- Forbes Disease
- Friedreich's Ataxia
- Left Ventricular Non Compaction
- Muscular Dystrophy With Associated HCM
- Noonan Syndrome
- Pompe Disease
- Wolff-Parkinson-White Syndrome
Beckwith-Wiedemann (B-W) Syndrome
Beckwith-Wiedemann (B-W) Syndrome affects many parts of the body. It is an overgrowth syndrome which means that infants who have it are significantly larger than normal. They tend to be taller than those around them at childhood. Growth begins to slow at age 8. In some children with Beckwith-Wiedemann Syndrome, children’s features may be slightly larger on one side of the body giving them an asymmetrical appearance. This is known as hemihyperplasia which usually becomes less apparent over time. This syndrome is caused by a mutation in the genes on chromosome 11. It effects about 1 in 13,700 newborn babies however the prevalence may be higher due to the fact that those with mild symptoms may not be diagnosed. In about 85% of the cases, only one person in a family has been diagnosed. However, parents with one child with the syndrome may be at risk for having another child with the disorder. In the other 10-15% of cases, multiple people have been diagnosed which makes it appear as an autosomal dominant inheritance pattern.
There are a variety of signs and symptoms including but not limited to large size for a newborn, a red birthmark on the forehead or eyelids, creases in the ear lobes, macroglossia (large tongue), low blood sugar, defects of the abdominal wall, enlargement of some organs, overgrowth of one side of the body, tumor growths, and kidney abnormalities. Some children who are born with this syndrome may have an umbilical hernia (abdominal organs protruding through the belly-button) as well as openings in the wall of the abdomen. Children with this syndrome are at an increased risk for developing several cancerous and noncancerous tumors, especially Wilms tumor and hepatoblastoma (a type of liver cancer). Tumors develop in 10% of the people and usually appear in childhood. It is reported that there is an increased risk of congenital heart disease and idiopathic cardiomyopathy in some patients. Life expectancy is usually normal because most patients do not have serious medical problems associated with this condition.
Treatment is determined by the type and severity of the syndrome. All diagnosed children should be screened for tumor growth. In newborns, it is important to treat for hypoglycemia (low blood sugar) in order to reduce the risk of complications in the central nervous system. Abdominal wall defects will also have to be treated. Infants with insufficient airways may need a breathing tube. Since macroglossia can interfere with feedings, children may need feeding tubes. However, one should consult with their doctor before pursuing treatment.
Figure 1: Image showing symptoms and distinct features of those with Beckwith-Wiedemann Syndrome.