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Beckwith–Wiedemann syndrome (/ ˈ b ɛ k ˌ w ɪ θ ˈ v iː d ə. m ə n /; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) of cases of BWS are familial, meaning that a close relative may also have BWS, and parents ...
Presence of neurological abnormality or macrocephaly can suggest macrocephaly-capillary malformation syndrome. Hemihypertrophy-multiple lipomatosis or Beckwith–Wiedemann syndrome are diseases with total hypertrophy and are associated with an increased risk of Wilms' tumor. [26] [27] About 10% of DCMO cases present with total hemihypertrophy. [3]
Branchio-oto-renal syndrome (BOR) [4] [5] is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It is also known as Melnick-Fraser syndrome. It is also known as Melnick-Fraser syndrome.
Hemihyperplasia is seen in several congenital syndromes including Beckwith-Wiedemann syndrome and Russell-Silver syndrome. [2] Hemihyperplasia is a congenital overgrowth disorder, and the asymmetry can range from mild to severe.
Proteus syndrome is a rare genetic disorder [1] that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development. [2] The clinical symptoms and radiographic findings of Proteus syndrome are highly variable, as are its orthopedic manifestations ...
In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [2] In general, children with overgrowth syndromes are at increased risk of embryonic tumor development.
Other conditions, such as Beckwith–Wiedemann syndrome, are associated with abnormalities of imprinted genes on the short arm of chromosome 11. Chromosome 14 is also known to cause particular symptoms such as skeletal abnormalities, intellectual disability, and joint contractures, among others. [7] [8]
John Bruce Beckwith (September 18, 1933 – January 21, 2025) was an American pediatric pathologist known for helping to identify Beckwith-Wiedemann syndrome, which is partly named after him. He is also known for his role as reference pathologist for the National Wilms Tumor Study Group , a position he held from 1969 until his retirement thirty ...