Is Beckwith-Wiedemann syndrome serious?

Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.

What is the cause of Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth and cancer predisposition disorder. BWS is caused by changes on chromosome 11p15. 5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person.

Does Beckwith-Wiedemann syndrome affect the brain?

Our data suggest that brain malformations may present as a finding within the BWS phenotype when the molecular etiology involves imprinted domain 2. Brain imaging may be useful in identifying such malformations in individuals with BWS and neurodevelopmental issues.

Is Beckwith-Wiedemann syndrome a disability?

If you or your dependent(s) are diagnosed with Beckwith-Wiedemann Syndrome Due To 11P15 Microdeletion and experience any of these symptoms, you may be eligible for disability benefits from the U.S. Social Security Administration.

Is there a cure for Beckwith-Wiedemann syndrome?

While there is no cure for BWS, there are treatments available for many of the symptoms. Treatment may include medication for hypoglycemia, surgery to repair an omphalocele or other birth defect , or surgery to reduce size of the tongue (macroglossia repair).

What does Beckwith-Wiedemann syndrome look like?

The most common features of BWS include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia (low blood sugar) in the newborn period, and unusual ear creases or pits.

How is Beckwith-Wiedemann syndrome treated?

Treatment may include medication for hypoglycemia, surgery to repair an omphalocele or other birth defect , or surgery to reduce size of the tongue (macroglossia repair). Early intervention, speech therapy, occupational therapy, and physical therapy may also be recommended.

Which is a common characteristic of Beckwith-Wiedemann syndrome?

How do you test for Beckwith-Wiedemann?

Testing is usually indicated by abnormal ultrasound, including omphalocele, macroglossia, or enlarged abdominal organs in the fetus. Placental mesenchymal dysplasia, polyhydramnios, or increased alpha-fetoprotein (AFP) in the second trimester can also occur (59).

How do you test for Beckwith-Wiedemann syndrome?

Is Beckwith-Wiedemann syndrome curable?

Beckwith-Wiedemann syndrome has no cure, but some treatments can help ease its symptoms. The most common Beckwith-Wiedemann syndrome treatments include: Medicine: Some infants require medicine for low blood sugar that persists past their first month.

How do I know if my baby has Beckwith-Wiedemann syndrome?

Signs and symptoms The features of Beckwith-Wiedemann syndrome include: Large birth weight and length (macrosomia) Overgrowth of one side or one part of the body (hemihypertrophy/hemihyperplasia)) An enlarged tongue (macroglossia).

What are the symptoms of Beckwith Wiedemann syndrome?

Symptoms Symptoms 1 Large tongue 2 Abdominal wall defect (weakness in the stomach wall near the umbilical cord) 3 Overgrowth on one side of the body 4 A specific type of kidney tumor (Wilms tumor) 5 Abnormal level of insulin in the blood

What are the signs and symptoms of macroglossia?

Symptoms associated with macroglossia may include drooling; speech impairment; difficulty eating; stridor; snoring; airway obstruction; abnormal growth of the jaw and teeth; ulceration; and/or dying tissue on the tip of the tongue.

What kind of tongue does an infant with Beckwith Wiedemann have?

Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue ( macroglossia ), which may interfere with breathing, swallowing, and speaking.

When does growth slow down for Beckwith Wiedemann?

It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall.