Page last updated on:

7/06/2006 9:56 p.m.

Assisting individuals and families affected by BWS

The Beckwith-Wiedemann Children’s Association of New Zealand

Symptoms / characteristics of

beckwith-wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a disorder of growth characterized by macrosomia (large body size), macroglossia (large tongue), visceromegaly (large organs in the abdomen), embryonal tumors (Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma), omphalocele (large sack-like herniation of the umbilicus), neonatal hypoglycermia (low blood sugars), and ear creases and pits.

The symptoms or indicators of BWS are many and varied.  It is virtually unknown for a child to have all of the symptoms , and not every child exhibits the same symptoms. 

Also individual symptoms may be manifested to a greater or lesser degree.

There is no formal diagnostic criteria for BWS. Symptoms are generally divided into major and minor types.  Generally it is accepted that the presence of at least two major and one minor symptom would indicate a diagnosis of BWS.

Major findings:

· Macroglossia (large tongue) leading to feeding difficulties and occlusion of the respiratory airways

· Omphalocele (sack-like herniation of the umbilicus or belly button) or umbilical hernia

· Macrosomia (increased growth in weight and height over the 97 %)

· Earlobe creases or pits behind the upper ear

· Visceromegaly (large abdominal organs ie liver, spleen, kidneys, adrenal glands and pancreas)

· Embryonal tumor (eg Wilms tumor, hepatoblastoma, rhabdomyosarcoma)

· Hemiphyperplasia (over growth of one part of the body, usually on one side but both sides can be affected, which is not present at birth, but appears later in childhood.)

· Adrenocortical cytomegaly (enlarged adrenal gland)

· Kidney abnormalities

 

Minor findings:

·  Facial nevus flammeus (strawberry birth mark found on the forehead, eyelids)

· polyhydramnios (increased amount of fluid in the amniotic sack surrounding the baby before birth)

· Prematurity (birth before 38 weeks of gestation)
*Neonatal hypoglycemia (low blood sugars occurring soon after birth)

· Hemangioma (red birth marks, raised or flat, that grow larger over time then recede)

· Unusual boney structures of the face

· Heart abnormalities

· Weakened abdominal muscles (pot belly appearance)

· Advanced bone age

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