What does Beckwith-Wiedemann syndrome look like?

What does Beckwith-Wiedemann syndrome look like?

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.

How is BWS diagnosed?

BWS may be diagnosed or confirmed shortly after birth based on a thorough clinical evaluation, detection of characteristic physical findings (e.g., increased weight and length, macroglossia, abdominal wall defects), and genetic testing of the BWS critical region.

What are the symptoms of Hemihyperplasia?

What are the symptoms? The most obvious symptom of hemihyperplasia is the tendency for one side of the body to be larger than the other side. An arm or a leg can be longer or larger in circumference. In some cases, the trunk or the face on one side is larger.

Is there a cure for BWS?

While there is no cure for BWS, there are treatments available for many of the symptoms. Treatment may include medication for hypoglycemia, surgery to repair an omphalocele or other birth defect , or surgery to reduce size of the tongue (macroglossia repair).

Is Beckwith-Wiedemann syndrome serious?

Tumors develop in about 10 percent of people with this condition and almost always appear in childhood. Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal.

Can hemihyperplasia be cured?

There is no cure for hemihyperplasia and treatment depends on the cause of your child’s hemihyperplasia. Your child may be recommended to see an orthopedics provider for treatment of abnormal limb size.

How do you treat hemihyperplasia?

Treatment of hemihyperplasia addresses both functional and appearance-related purposes. Procedures performed include suction-assisted lipectomy, excision of excessive skin and subcutaneous tissue, and contouring or reducing facial bones. The goal of surgery is to preserve as much nerve and muscle function as possible.

Is BWS hereditary?

Approximately 10 to 15 percent of Beckwith-Wiedemann syndrome or hemihypertrophy cases are hereditary, meaning they may be passed from parents to children. In these cases, there is up to a 50 percent chance that an affected or carrier parent will pass on the genetic abnormality to a child during pregnancy.

Can Beckwith-Wiedemann syndrome be cured?

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.

What type of doctor treats hemihyperplasia?

develops. on his or her specific signs and symptoms. For example; your child may meet with surgeons, kidney doctors, dental specialists, speech specialists, genetic specialists, pediatric oncologists, and orthopedic specialists. Children with hemihypertrophy usually have normal intelligence and a normal lifespan.

Is hemihyperplasia inherited?

Hemihypertrophy can be inherited from a child’s parents, although it is not always clear which gene causes the disorder. A mutation on chromosome 11 is often associated with hemihypertrophy when linked to Beckwith-Wiedemann syndrome.