What is Beckwith-Wiedemann syndrome and what risks go with it?
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.
What is secondary autism?
Although the etiology is not clear, there are a minority of cases, less than 10%, where autism is part of another condition. Such cases are often referred to as “secondary” autism; these include tuberous sclerosis, fragile X syndrome, phenylketonuria and congenital infections secondary to rubella and cytomegalovirus.
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 is Beckwith-Wiedemann syndrome related to chromosome 11?
Inherited BWS or isolated hemihypertrophy. Most hereditary cases are associated with a mutation in a gene on chromosome 11 known as CDKN1C. Less than 1 percent of Beckwith-Wiedemann syndrome cases are due to a different type of abnormality on the same chromosome, a rearrangement of genetic material known as a “translocation” or an “inversion.”…
What to do with a child with Beckwith Wiedemann syndrome?
Experts at CHOP recommend that children who have features consistent with a clinical diagnosis of Beckwith-Wiedemann syndrome or isolated hemihypertrophy — but who receive negative genetic test results — receive the same medical management and cancer surveillance protocol as children who have a confirmed genetic diagnosis.
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.
How is BW related to imprinting centers on chromosome 11?
SBW is often associated with changes in regions of DNA on chromosome 11 called imprinting centers (IC1 and IC2), which control the methylation of several genes involved in normal growth. Abnormal methylation disrupts the regulation of these genes, leading to overgrowth and the other features of BWS.