Which are the symptoms of Beckwith-Wiedemann Syndrome?

Symptoms of Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann Syndrome (BWS) is a rare genetic disorder that affects various parts of the body. It is characterized by overgrowth, specific physical features, and an increased risk of certain childhood tumors. The symptoms of BWS can vary from person to person, but there are several common signs to look out for.

Macrosomia

One of the most prominent features of BWS is macrosomia, which refers to excessive prenatal and postnatal growth. Babies with BWS are often larger than average at birth, with a high birth weight and length. This overgrowth may continue throughout childhood, resulting in accelerated growth and taller stature compared to their peers.

Visceromegaly

BWS can also cause visceromegaly, which is the enlargement of certain organs. The most commonly affected organs include the liver, kidneys, and pancreas. Visceromegaly may lead to functional problems and can sometimes be detected through imaging tests.

Specific Facial Features

Children with BWS may exhibit distinct facial characteristics, although these features can vary in severity. Some common facial signs include a prominent forehead, low-set ears, a wide nasal bridge, and a small chin. These features may become less noticeable as the child grows older.

Omphalocele or Umbilical Hernia

Another common symptom of BWS is the presence of an omphalocele or umbilical hernia. An omphalocele is a birth defect in which the infant's abdominal organs protrude through the belly button, while an umbilical hernia is a less severe condition where the intestines push through the abdominal wall near the navel. These abdominal wall defects may require surgical intervention.

Hemihypertrophy

Hemihypertrophy, also known as hemihyperplasia, is a condition characterized by asymmetric overgrowth of one side of the body. In BWS, hemihypertrophy typically affects one arm or leg, causing it to be larger or longer than the other side. This asymmetry may be subtle or more pronounced.

Hypoglycemia

Some infants with BWS may experience episodes of low blood sugar (hypoglycemia) shortly after birth. Hypoglycemia can cause symptoms such as irritability, tremors, sweating, and poor feeding. It is important to monitor and manage blood sugar levels in affected infants to prevent complications.

Increased Tumor Risk

Individuals with BWS have an increased risk of developing certain childhood tumors. The most common tumor associated with BWS is Wilms tumor, a kidney cancer that typically occurs in early childhood. Other tumors that may occur include hepatoblastoma (liver cancer), neuroblastoma (nerve tissue cancer), and rhabdomyosarcoma (soft tissue cancer).

Other Possible Features

In addition to the main symptoms mentioned above, BWS can also present with other less common features. These may include ear creases or pits, cleft palate or lip, heart defects, advanced bone age, and developmental delays. It is important to note that not all individuals with BWS will have all of these symptoms.

If you suspect that your child may have Beckwith-Wiedemann Syndrome or if you have a family history of the condition, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management. Early detection and intervention can help address potential complications and provide necessary support for individuals with BWS.