Beckwith–Wiedemann syndrome

Beckwith-Wiedemann syndromeBeckwith Wiedemann syndromeBeckwith-WiedemannBeckwith–WiedemannBWSMacroglossia exomphalos gigantism
Beckwith–Wiedemann syndrome (abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.wikipedia
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Hemihypertrophy

hemihyperplasia
In addition, some children with BWS have other findings including: nevus flammeus, prominent occiput, midface hypoplasia, hemihypertrophy, genitourinary anomalies (enlarged kidneys), cardiac anomalies, musculoskeletal abnormalities, and hearing loss.
Hemihyperplasia is seen in several congenital syndromes including Beckwith-Wiedemann syndrome and Russell-Silver syndrome.

Macroglossia

enlarged tongueSwollen tongueenlargement of the tongue
Originally, Dr. Hans-Rudolf Wiedemann (born 16 February 1915, Bremen, Germany, died 4 August 2006, Kiel) coined the term exomphalos-macroglossia-gigantism (EMG) syndrome to describe the combination of congenital abdominal wall defects as hernia (exomphalos), large tongues (macroglossia), and large bodies and/or long limbs (gigantism).
The most common causes of tongue enlargement are vascular malformations (e.g. lymphangioma or hemangioma) and muscular hypertrophy (e.g. Beckwith–Wiedemann syndrome or hemihyperplasia).

Neuroblastoma

Neuroepitheliomaa rare form of cancerCNS Neuroblastoma
Neuroblastoma is also a feature of neurofibromatosis type 1 and the Beckwith-Wiedemann syndrome.

Wilms' tumor

Wilms tumornephroblastomaWilms' tumour
Most children (>80%) with BWS do not develop cancer; however, children with BWS are much more likely (~600 times more) than other children to develop certain childhood cancers, particularly Wilms' tumor (nephroblastoma), pancreatoblastoma and hepatoblastoma.

Occipital bone

occiputoccipitalbasioccipital
In addition, some children with BWS have other findings including: nevus flammeus, prominent occiput, midface hypoplasia, hemihypertrophy, genitourinary anomalies (enlarged kidneys), cardiac anomalies, musculoskeletal abnormalities, and hearing loss.
Genetic disorders can cause a prominent occiput as found in Edwards syndrome, and Beckwith–Wiedemann syndrome.

Mesoblastic nephroma

nephroma, mesoblasticCongenital mesoblastic nephroma
In addition to Wilms tumor and hepatoblastoma, children with BWS have been shown in individual case reports to develop ganglioneuroma, adrenocortical carcinoma, acute lymphoid leukemia, liver sarcoma, thyroid carcinoma, melanoma, rhabdomyosarcoma, and mesoblastic nephroma.
Congenital anomalies have been reported in 11 patients: 6 with genitourinary anomalies, 2 with gastrointestinal anomalies, 1 with hydrocephalus, and 1 with the Beckwith–Wiedemann syndrome.

H19 (gene)

H19H19 geneH-19
Genes involved are IGF-2, CDKN1C, H19, and KCNQ1OT1.
H19 is also known as BWS because aberrant H19 expression can be involved in Beckwith-Wiedemann Syndrome ("BWS"), as well as Silver-Russell syndrome.

Rhabdomyosarcoma

skeletal muscle sarcoma
In addition to Wilms tumor and hepatoblastoma, children with BWS have been shown in individual case reports to develop ganglioneuroma, adrenocortical carcinoma, acute lymphoid leukemia, liver sarcoma, thyroid carcinoma, melanoma, rhabdomyosarcoma, and mesoblastic nephroma.
However, RMS has been correlated with familial cancer syndromes and congenital abnormalities including neurofibromatosis type 1, Beckwith-Wiedemann syndrome, Li–Fraumeni syndrome, cardio-facio-cutaneous syndrome, and Costello syndrome.

Chromosome 11

11human chromosome 1111p
BWS has been shown to specifically involve mutations in a defined region on the short arm of chromosome 11 referred to as 11p15.5, that leads to overactivity of the IGF-2 gene (growth factor) and/or no active copy of CDKN1C (inhibitor of cell proliferation gene).

Cyclin-dependent kinase inhibitor 1C

p57CDKN1CP57 (gene)
Genes involved are IGF-2, CDKN1C, H19, and KCNQ1OT1.
Mutations of CDKN1C are implicated in sporadic cancers and Beckwith-Wiedemann syndrome suggesting that it is a tumor suppressor candidate.

J. Bruce Beckwith

John Bruce Beckwith
In the 1960s, Dr. John Bruce Beckwith, an American pathologist and Dr. Hans-Rudolf Wiedemann, a German pediatrician, independently reported cases of a proposed new syndrome.
John Bruce Beckwith (born September 18, 1933) is an American pediatric pathologist known for helping to identify Beckwith-Wiedemann syndrome, which is partly named after him.

Omphalocele

exomphalosOmphalocoele
Originally, Dr. Hans-Rudolf Wiedemann (born 16 February 1915, Bremen, Germany, died 4 August 2006, Kiel) coined the term exomphalos-macroglossia-gigantism (EMG) syndrome to describe the combination of congenital abdominal wall defects as hernia (exomphalos), large tongues (macroglossia), and large bodies and/or long limbs (gigantism).
Omphalocele occurs in 1 in 4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), neural tube defect (40%), exstrophy of the bladder and Beckwith–Wiedemann syndrome.

Uniparental disomy

Heterodisomyuniparental isodisomydisomy
Other patients have paternal uniparental disomy (UPD) of chromosome 11, meaning that the maternal copy of this chromosome is replaced with an extra paternal copy.

In vitro fertilisation

IVFin vitro fertilizationin-vitro fertilization
Another study found that children conceived by in vitro fertilisation (IVF) are three to four times more likely to develop the condition.

Epigenetics

epigeneticepigeneticallyepigenetic regulation
Many other patients have abnormal DNA methylation in different areas of 11p15.5, meaning that normal epigenetic marks that regulate imprinted genes in this region are altered.
Beckwith-Wiedemann syndrome is also associated with genomic imprinting, often caused by abnormalities in maternal genomic imprinting of a region on chromosome 11.

Insulin-like growth factor 2

IGF2IGF-IIIGF-2
Genes involved are IGF-2, CDKN1C, H19, and KCNQ1OT1.
Loss of imprinting of IGF2 is a common feature in tumors seen in Beckwith-Wiedemann syndrome.

KCNQ1OT1

DMR1KCNQ1
Genes involved are IGF-2, CDKN1C, H19, and KCNQ1OT1.
The loss of the maternal methylation of the KCNQ1OT1 allele is most commonly associated with Beckwith-Wiedemann syndrome.

Hans-Rudolf Wiedemann

In the 1960s, Dr. John Bruce Beckwith, an American pathologist and Dr. Hans-Rudolf Wiedemann, a German pediatrician, independently reported cases of a proposed new syndrome.
Beckwith–Wiedemann syndrome

Perlman syndrome

* Perlman syndrome
Perlman syndrome shares clinical overlaps with other overgrowth disorders, with similarities to Beckwith–Wiedemann syndrome and Simpson-Golabi-Behmel syndrome having been particularly emphasized in scientific study.

Childhood cancer

pediatric cancerpediatric oncologycancer in children
Beckwith–Wiedemann syndrome (abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.

Hypoplasia

hypoplasticunderdevelopeddeformity
In addition, some children with BWS have other findings including: nevus flammeus, prominent occiput, midface hypoplasia, hemihypertrophy, genitourinary anomalies (enlarged kidneys), cardiac anomalies, musculoskeletal abnormalities, and hearing loss.

Hepatoblastoma

Most children (>80%) with BWS do not develop cancer; however, children with BWS are much more likely (~600 times more) than other children to develop certain childhood cancers, particularly Wilms' tumor (nephroblastoma), pancreatoblastoma and hepatoblastoma.

Organomegaly

visceromegalyO'''rganomegalyorgan enlargement