What are the symptoms of Beckwith-Wiedemann syndrome?
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.
- Large tongue (macroglossia)
- Low blood sugar.
- Abdominal wall defect (umbilical hernia or omphalocele)
- Enlargement of some organs.
Is Beckwith-Wiedemann syndrome serious?
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.
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.
Is Beckwith-Wiedemann syndrome curable?
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).
How do you diagnose BWS?
BWS may be diagnosed or confirmed shortly after birth based on a thorough clinical evaluation, detection of characteristic physical findings (e.g., increased weight and length, macroglossia, abdominal wall defects), and genetic testing of the BWS critical region.
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.
Do kids grow out of Beckwith-Wiedemann syndrome?
Outlook. Most children with Beckwith-Wiedemann syndrome and isolated hemihypertrophy grow up to be healthy adults. The physical features of Beckwith-Wiedemann syndrome often become less noticeable as children grow.
Is Beckwith-Wiedemann maternally imprinted?
Beckwith–Wiedemann syndrome (BWS) is a representative imprinting disorder characterized by macrosomia, macroglossia and abdominal wall defects, and exhibits a predisposition to tumorigenesis. The relevant imprinted chromosomal region in BWS is 11p15.
Why does BWS cause hypoglycemia?
Some newborns with BWS may have low blood sugar (neonatal hypoglycemia or hyperinsulinism) due to overgrowth and excessive secretion of the hormone insulin by the pancreas. Insulin helps regulate blood glucose levels by promoting the movement of glucose into cells.
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.