Beckwith-Wiedemann Syndrome | Boston Children's Hospital (2024)

FAQs

Can people with Beckwith-Wiedemann have children? ›

Individuals with sporadic Beckwith-Wiedemann syndrome and isolated hemihypertrophy are not likely to pass these conditions on to their children. Parents of children with sporadic Beckwith-Wiedemann syndrome or isolated hemihypertrophy are not at increased risk of having other children with these disorders.

Tumors develop in about 10 percent of people with this condition and almost always appear in childhood. Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.

Is BWS a developmental disability? Unless a child has had untreated low blood sugar or other medical complication, there's no indication that Beckwith-Wiedemann Syndrome affects children's intellectual ability.

Beckwith-Wiedemann syndrome affects 1 in 10,500 to 13,700 newborns worldwide. The condition may actually be more common than this estimate because some people with mild symptoms are never diagnosed.

There's no cure for BWS, but symptoms can be managed. Beckwith-Wiedemann syndrome (BWS) is a rare disorder present at birth that causes overgrowth in children. Signs and symptoms of BWS can range from mild to severe. Some children only have one or two symptoms, while others may have many symptoms.

Now 16-month-old Paisley Morrison-Johnson was born with Beckwith-Wiedemann syndrome, a condition in which affected infants grow abnormally large parts of the body. In Paisley's case, her tongue was the size of an adult's when she was born.

BWS can cause abnormal brain development, including an enlarged brain and an irregular pattern of brain growth. This can lead to problems with brain function and cognitive development.

In addition to macroglossia, BWS may be characterized by other differences of the skull and facial (craniofacial) region. Such features may include distinctive slit-like grooves or creases in the ear lobes and dimples on the back of the ears (ear creases or pits).

Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia (persistent hypoglycemia or transient hypoglycemia due to hyperinsulinemia), macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and ...

Some treatments and services for Beckwith-Weidemann syndrome performed at Boston Children's include: Tongue reduction to help with feeding or breathing. Abdominal wall or hernia repairs. Orthopedic interventions or surgery.

Does Beckwith-Wiedemann syndrome affect speech? ›

One of the most common features of the condition is macroglossia (large tongue size). Macroglossia can cause difficulties with feeding, speech, the development of the teeth and jaws, and increased drooling.

Macroglossia (enlarged tongue) is a rare condition that typically affects more children than adults. People with macroglossia have tongues that are larger than typical, given the size of their mouths.

The prognosis varies depending on the symptoms' severity, molecular subtype, time of diagnosis, and occurrence of BWS-related tumors. Most patients with BWS have an average life expectancy. Adults with BWS may have less pronounced growth or facial abnormalities.

The prevalence is approximately equal in males and females, with the notable exception of an increased frequency of female versus male monozygotic twins [6]. BWS usually occurs sporadically (85 percent), but familial transmission occurs in approximately 15 percent of cases.

Signs and symptoms of Beckwith-Wiedemann syndrome include: Large size for a newborn. Red birth mark on forehead or eyelids (nevus flammeus) Creases in ear lobes.

Thus, in familial cases, the risk to offspring depends on the sex of the transmitting parent, with maternal transmission associated with greatly increased penetrance. Approximately 20% of sporadic cases demonstrate paternal uniparental disomy (UPD) for chromosome 11p15.

Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes.

While the majority of families have a recurrence risk of less than 1%, certain underlying genetic mechanisms (e.g., CDKN1C pathogenic variants and copy number variants involving 11p15) may be associated with a recurrence risk as high as 50% depending on the sex of the transmitting parent and the specific alteration.