Beckwith-Wiedemann Syndrome (BWS) is a rare genetic overgrowth disorder causing babies to be large at birth (macrosomia) with features like an oversized tongue (macroglossia), abdominal wall defects (omphalocele, umbilical hernia), and an increased risk for certain childhood cancers (Wilms tumor, liver tumors). It's caused by genetic/epigenetic changes on chromosome 11p15, leading to imbalanced growth, but symptoms vary widely, with some children having only mild signs, and growth often slows by age 8, resulting in average adult height.
Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal. Beckwith-Wiedemann syndrome affects 1 in 10,500 to 13,700 newborns worldwide.
Beckwith-Wiedemann syndrome (BWS) is the most common congenital overgrowth syndrome. Specifically, the condition is a human imprinting disorder caused by genetic and epigenetic changes affecting molecular regulation on chromosome 11p15.
Children with Beckwith-Wiedemann syndrome may have certain signs and symptoms of the condition, including: Overgrowth of one side of the body or a part of one side of the body (hemihypertrophy/hemihyperplasia) An enlarged tongue (macroglossia)
There's no cure for Beckwith-Wiedemann syndrome. But there are many treatments available to correct physical differences and relieve your child's symptoms. BWS usually doesn't cause any serious medical issues.
Conclusions: As intrinsic characteristics of BWS, individuals exhibited macroglossia resulting in an anterior open bite and a wide dental arch. A long facial height and an enlarged anterior cranial base and mandibular body were also noted.
Our data suggest that brain malformations may present as a finding within the BWS phenotype when the molecular etiology involves imprinted domain 2. Brain imaging may be useful in identifying such malformations in individuals with BWS and neurodevelopmental issues.
What are the signs and symptoms of BWS?
Wiedemann-Steiner syndrome (WDSTS) is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, broad nasal bridge, and downslanting and vertically narrow palpebral ...
Some may have only a single, subtle feature, such as one side of the body being larger than the other (also known as lateralized overgrowth). BWSp occurs in approximately 1 in 11,000 births, with about equal incidence in boys and girls.
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.
Abstract. Although Beckwith-Wiedemann syndrome spectrum (BWSp) is not usually associated with intellectual disability, recent evidences calls for further investigation of cognitive development and academic skills in children with BWSp.
Beckwith–Wiedemann syndrome. Other names. exomphalos–macroglossia–gigantism (EMG) syndrome.
Williams syndrome may cause poor growth in childhood, and most adults with the condition are shorter than average. Williams syndrome can also cause endocrine concerns like having too much calcium in your blood and urine, an underactive thyroid and early puberty.
The highest birth weights were found not only in patients diagnosed with the Beckwith-Wiedemann syndrome (mean, 3.78 kg), as had been expected, but also in those with hemihypertrophy (3.80 kg) or perilobar nephrogenic rests (3.56 kg) in addition to their Wilms' tumor.
The average IQ of a young adult with Down syndrome is 50, equivalent to the mental age of an 8- or 9-year-old child, but this number varies widely. At the same time, they enjoy a rich social and emotional awareness.
Children often have telecanthus, long/dense eyelashes and vertically narrow palpebral fissures, as well as other dysmorphic features. Short stature or relative short stature compared to target height is often present and most commonly develops during the first year of life.
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood.
Overall, each of the five facial features (dolicocephaly, enopthalmos, down-slanting palpebral fissures, malar hypoplasia, and retrognathia) was significantly more prevalent among subjects than controls (Table 2).
In children with Beckwith-Wiedemann syndrome (BWS), some parts of the body grow more than they should (called an overgrowth syndrome). This means a child might have a high birth weight or might have one arm or leg that is bigger than the other. BWS also can affect other parts of the body, such as the tongue .
Children can have a large tongue due to several medical conditions: Acromegaly (gigantism) Amyloidosis. Beckwith-Wiedemann syndrome.
BWS can cause abnormal brain development, including an enlarged brain and an irregular pattern of brain growth. This can lead to problems with brain function and cognitive development.
Most individuals with Williams syndrome have a degree of intellectual disability, ranging from mild to severe. Research studies have suggested that IQ scores for children with Williams syndrome range from 40 to 112, with a mean IQ score of 68 which equates to a mild intellectual disability (average IQ is 100).
Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth disease and is not usually associated with intellectual delay. Living with a chronic illness condition such as BWS, however, might affect emotional-behavioral functioning and psychosocial development.
A Rare Disease
Another challenge for families of those with BWS is the fact that the disease is rare and, as a result, not well-known. About 300 children per year are born with BWS, and the National Organization for Rare Disorders puts the total incidence rate at one in every 10,340 live births.