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 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.
Which is a common characteristic of Beckwith-Wiedemann syndrome?
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 there a cure for Beckwith-Wiedemann syndrome?
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.
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.
How do you test for Beckwith-Wiedemann syndrome?
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).
Is Beckwith-Wiedemann syndrome fatal?
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 Beckwith-Wiedemann syndrome rare?
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.
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.
How does Beckwith-Wiedemann syndrome occur?
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.
What causes Beckwith-Wiedemann?
Most cases of Beckwith-Wiedemann syndrome are caused by abnormal regulation of imprinted genes in the BWS critical region (IC1 and IC2) on chromosome 11p15. 5 caused by one of several genetic mechanisms. About 10% to 15% of affected people are part of families with more than one affected person.