What is Beckwith Wiedemann syndrome? (2024)

What is Beckwith Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is a congenital growth disorder, which means it's present at birth. BWS has various signs and symptoms, including a large body size at birth and taller-than-average height during childhood, a large tongue, and hypoglycemia (low blood sugar).

(Video) Understanding Beckwith-Wiedemann Syndrome: From Diagnosis to Management
(The Children's Hospital of Philadelphia)
What is the life expectancy of Beckwith-Wiedemann syndrome?

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.

(Video) Dr. Andrew Feinberg Discusses Genetics of Beckwith-Wiedemann Syndrome
(Beckwith-Wiedemann Children's Foundation Int'l)
What are the symptoms of Beckwith-Wiedemann syndrome?

What are the signs and symptoms of BWS?
  • Increased height and weight at birth or in childhood.
  • Asymmetry of growth, for example one arm or leg larger than the other (hemihypertrophy).
  • Large tongue size (macroglossia).
  • Low blood sugar in the first few days or weeks of life (neonatal hypoglycaemia).

(Video) Beckwith-Wiedemann Syndrome - What is BWS?
(Jabin Postal Films)
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. They are often larger than their peers during childhood, but their growth slows as they get older.

(Video) Wiley Lucente | Beckwith-Wiedemann Children's Foundation Int'l
(Beckwith-Wiedemann Children's Foundation Int'l)
What are the facial features of Beckwith-Wiedemann?

In addition to macroglossia, BWS may be characterized by other differences of the skull and facial (craniofacial) region. Such features may include distinctive slit-like grooves or creases in the ear lobes and dimples on the back of the ears (ear creases or pits).

(Video) The Tipp Family | Beckwith-Wiedemann Children's Foundation Int'l
(Beckwith-Wiedemann Children's Foundation Int'l)
Is Beckwith-Wiedemann a disability?

Is BWS a developmental disability? Unless a child has had untreated low blood sugar or other medical complication, there's no indication that Beckwith-Wiedemann Syndrome affects children's intellectual ability.

(Video) The Smith Family | Beckwith-Wiedemann Children's Foundation Int'l
(Beckwith-Wiedemann Children's Foundation Int'l)
What is the paternal age of Beckwith-Wiedemann syndrome?

Fathers of children with BWS in the ART group were an average of 36.9 years old (range 32.0 – 45.0 years) at the time of delivery, which was significantly older than the fathers of children with BWS conceived without ART who were an average of 32.1 years old (range 17.9 – 64.3 years) (P=. 005).

(Video) Beckwith-wiedemann syndrome mnemonic
What age is Beckwith-Wiedemann syndrome diagnosed?

Beckwith-Wiedemann syndrome (BWS) is a genetic syndrome associated with overgrowth and cancer predisposition, including predisposition to Wilms tumor (WT). Patients with BWS and BWS spectrum (BWSp) are screened from birth to age 7 years for BWS-associated cancers.

(Video) Beckwith-Wiedemann Syndrome - CRASH! Medical Review Series
(Paul Bolin, M.D.)
Why does my baby have a big tongue?

Macroglossia is the medical term for when a child is born with an enlarged tongue. It is one of the most common features of Beckwith-Wiedemann Syndrome (BWS), affecting around 90 percent of children with the congenital disorder.

(Video) The Shawl Family | Beckwith-Wiedemann Children's Foundation Int'l
(Beckwith-Wiedemann Children's Foundation Int'l)
Does Beckwith-Wiedemann syndrome affect the brain?

Beckwith-Wiedemann syndrome (BWS) can affect many organ systems and the brain in several ways. There is an excess of cerebrospinal fluid in the brain, causing the brain to swell and increase pressure on the brain tissue.

(Video) Beckwith-Wiedemann Syndrome
(University Hospitals)

What does a large tongue indicate?

Macroglossia, sometimes called giant tongue or enlarged tongue, is a rare condition that typically affects more children than adults. Most people have macroglossia because they have other conditions, such as Beckwith-Wiedemann syndrome or Down syndrome.

(Video) Tracey Casserley's Story - Beckwith-Wiedemann Early Detection
(Beckwith-Wiedemann Children's Foundation Int'l)
How do I know if my baby has a big tongue?

Symptoms of macroglossia
  1. Shortness of breath ( dyspnoea )
  2. Difficulty swallowing ( dysphagia )
  3. Difficulty in speaking ( dysphonia )
  4. Drooling.
  5. Mouth sores.
  6. Scalloped tongue.
  7. An enlarged lower jaw.
  8. Mouth breathing.

What is Beckwith Wiedemann syndrome? (2024)
Has a baby ever been born with Beckwith-Wiedemann syndrome adult sized tongue?

Sixteen-month-old Paisley was born with a rare genetic condition called Beckwith-Wiedemann that causes organs and body parts to overgrow. In her case, the tongue grew twice the size of her mouth.

How do I know if my baby has Beckwith-Wiedemann syndrome?

BWS has various signs and symptoms, including a large body size at birth and taller-than-average height during childhood, a large tongue, and hypoglycemia (low blood sugar). In some children with BWS, parts of the body, such as the ears, may grow abnormally large, leading to an asymmetric or uneven appearance.

How do you test for Beckwith-Wiedemann syndrome?

Patients with BWS clinical score ≥2 should receive genetic testing while patients with clinical score <2 do not meet the criteria for testing. Recommended first-line testing (highlighted in orange) should analyze methylation at H19/IGF2:IG DMR (IC1) and KCNQ1OT1:TSS DMR (IC2) and copy number variation (CNV).

Does macroglossia go away?

[12] In some cases, macroglossia is spontaneously corrected due to more pronounced orofacial growth to accommodate the tongue. [13] Most cases can be managed conservatively without the need for surgery.

What is the opposite of Beckwith-Wiedemann?

Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome.

Does Beckwith-Wiedemann syndrome affect speech?

One of the most common features of the condition is macroglossia (large tongue size). Macroglossia can cause difficulties with feeding, speech, the development of the teeth and jaws, and increased drooling.

Can Beckwith-Wiedemann syndrome be detected before birth?

Beckwith–Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes.

Is there a cure for Beckwith-Wiedemann syndrome?

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 vitamin deficiency causes macroglossia?

Vitamin B12 deficiency may cause glossitis that mimics macroglossia.

Can you have Down syndrome and not look like it?

Babies born with mosaic Down syndrome can have the same features and health problems as babies born with trisomy 21 or translocation Down syndrome. However, it is possible that these babies may have fewer characteristics of the syndrome than those with other types of Down syndrome.

How do you fix macroglossia?

How is macroglossia treated?
  1. Speech therapy. Speech therapy is used to treat mild macroglossia. ...
  2. Medications. If the underlying cause can be treated with medication, a doctor will likely prescribe it. ...
  3. Orthodontic treatment. Macroglossia may be associated with dental issues, like misaligned teeth spacing. ...
  4. Surgery.
Oct 11, 2021

Is Beckwith-Wiedemann syndrome maternal or paternal imprinting?

CDKN1C is maternally expressed, with a low level of expression from the paternal allele in humans but not in mice. Thus, the parent-of-origin effects on penetrance described in familial BWS are consistent with predominantly maternal allele expression of CDKN1C.

Can a baby's tongue be too big for their mouth?

Signs & Symptoms

Macroglossia is a disorder characterized by a tongue that is large in proportion to other structures in the mouth. In the congenital type of the disorder, protrusion of the tongue from the mouth may interfere with feeding of the infant.


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