are associated with BWS?
There are roughly thirty characteristics that can be associated with BWS.
The entire list can be overwhelming, so the most common ones are mentioned
first below, followed by a full list at the bottom of the page. It is very
rare for a child with BWS to have all the characteristics, most cases have
only a few of them. Some of the distinctive features of BWS may need to be
corrected, but most of them diminish and disappear with time.
is no conclusive genetic test for BWS at this time, a diagnosis for BWS can
and should be made, not on blood tests, but rather based on a good history
and clinical evaluation by a geneticist.
The BWS diagnosis
is reached if there is a clinical suspicion AND presence of 2 of the 5
major characteristics are:
Macroglossia (large tongue)
Unexplained Hypoglycemia in the first four months of life.
Ear Creases or Pits
Abdominal Wall Defect (including even a mild naval hernia)
Birth weight over the 90-95% (adjusted for prematurity if relevant)
the other not so common characteristics may help with the diagnosis.
Although always larger than usual for an infant, the size of the tongue
can vary from child to child, as can it's effects on the child's ability
to eat, breathe, or speak. Therapy may be required, and in more severe cases,
reduction surgery may be necessary. In the past it was thought that most
children seem to "grow into their tongues," but what often happens is that
the lower jaw is pushed forward and becomes malformed as the result of constant
pressure from the large tongue.
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-Omphalocele: a defect in the abdominal wall, near the umbilical cord,
which allows some or all of the intestines and possibly other abdominal organs to protrude into
a covering membrane (sac). This usually requires surgical intervention soon
-Umbilical Hernia: a hernia in the area of the navel, which may or
may not require surgery.
-Diastasis Recti: weak or separated abdominal muscles
-Birth Weight and Length: usually above average.
-Visceromegaly: enlarged abdominal organs, particularly kidneys, liver,
-Hemihypertrophy: enlargement of one part of the body. Usually
all or part of one side of the body is affected, but there are some cases
where parts of both sides of the body are involved. Sometimes hemihypertrophy
is not present at birth but becomes apparent later in childhood.
-Earlobe creases : or pits behind the upper ear.
-Prominent occiput: enlarged back of the skull.
-Nevus Flammeus: a strawberry mark commonly found on the forehead
and eyelids. This is sometimes called a "stork bite," and usually disappears
in early childhood.
Full list of characteristics associated with BWS:
Noticed at birth or shortly thereafter:
Macroglossia (large tongue)
Abdominal wall anomalies (umbilical hernia, omphalocele, distasis recti)
Facial nevus flammeus (stork bites)
Visceromegaly (enlarged liver, kidneys, spleen, etc.)
Natal and post natal gigantism
Advanced bone age
Ear anomalies (pits, creases, notches, etc.)
Somatic asymmetry (may develop later as well)
Clitoral hypertrophy (also called cliteromegaly)
Diaphragmatic abnormalities (eventration, hernia)
Pancreatic hypertrophy, hyperplasia of the Islets of Langerhans
Cytomegaly and cysts of the adrenal cortex
Nephromegaly with prominent lobulations
May develop later:
Medullary sponge kidney
Maxillary underdevelopment (midface hypoplasia)
Prognathism of lower jaw
Hearing loss (conductive and neurosensory)
Enlarged tonsils and adenoids
Scoliosis (due to asymmetry)