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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]
There is disagreement as to how cases of KTS should be classified if there is an arteriovenous fistula present. Although several authorities have suggested that the term Parkes Weber syndrome is applied in those cases, [4] [12] [13] ICD-10 currently uses the term "Klippel–Trénaunay–Weber syndrome".
In some cases, children with hemihyperplasia may have different leg lengths. The two main surgical options for the treatment of uneven leg lengths are shortening and lengthening. Epiphysiodesis, which involves removing part of the growth plate of the longer leg, allowing the shorter leg to "catch up", may be performed on patients still able to ...
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.
Lymphedema is most frequently a complication of cancer treatment or parasitic infections, but it can also be seen in a number of genetic disorders. Tissues with lymphedema are at high risk of infection because the lymphatic system has been compromised. [3] Though incurable and progressive, a number of treatments may improve symptoms. [2]
A lethal version [6] of this condition exists, known as Cowchock–Wapner–Kurtz syndrome, that, in addition to cystic hygroma, includes cleft palate and lymphedema, a condition of localized edema and tissue swelling caused by a compromised lymphatic system.
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]