Beckwith-Wiedemann syndrome is a congenital growth disorder that causes large body size, large organs, and other symptoms.
Causes, incidence, and risk factors:
- The cause of Beckwith-Wiedemann syndrome is unknown, but it may be genetic.
- Most cases are associated with a defect in chromosome number 11.
- Infancy can be a critical period because of low blood sugar ( hypoglycemia ), omphalocele , and an increased rate of tumorogenesis.
- Wilm’s tumor and adrenal carcinoma are the most common tumor’s in patients with this syndrome.
Symptoms :
- Abdominal wall defect: umbilical hernia or omphalocele
- Creases in ear lobes-Enlargement of some organs and tissues
- External ear (pinna) abnormalities and low-set ears
- Large size for a newborn (large for gestational age)
- Large, prominent eyes
- Large tongue, sometimes protruding
- Lethargy
- Low blood sugar (hypoglycemia)
- Mild microcephaly
- Poor feeding
- Separated abdominal muscles (diastasis recti)
- Seizures-Undescended testicles (cryptorchidism)
Signs:
- A ridge in the forehead caused by premature closure of the bones (metopic ridge)
- Enlarged fontanelle (soft spot)
- Enlarged kidneys, liver, and spleen
- Large size (90th percentile)
- Low blood sugar (hypoglycemia)
Tests:
- Blood tests for low sugar and other abnormalities
- Chromosomal studies for abnormalities in chromosome 11
- MRI or CT scan of the abdomen
- Ultrasound of the abdomen
- X-ray of the abdomen-X-ray of the long bones
Complications -
- Development of tumors
- Feeding problems
- Hypoglycemia
- Respiratory difficulties from obstruction due to large tongue
- Seizures