Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (pronunciation: bek-with-wee-duh-muhn sin-drohm) is a genetic disorder characterized by overgrowth and an increased risk of childhood cancer and certain congenital anomalies.
Etymology
The syndrome is named after American pediatrician John Bruce Beckwith and German geneticist Hans-Rudolf Wiedemann, who independently described the condition in the 1960s.
Symptoms
The symptoms of Beckwith-Wiedemann syndrome can vary but often include enlarged tongue, abdominal wall defects, low blood sugar, earlobe creases, and enlarged internal organs.
Causes
Beckwith-Wiedemann syndrome is caused by changes in the regulation of gene activity in a particular region of chromosome 11. Most of these changes occur as random events during the formation of reproductive cells or in early embryonic development.
Diagnosis
Diagnosis of Beckwith-Wiedemann syndrome is based on clinical features and can be confirmed by genetic testing.
Treatment
Treatment for Beckwith-Wiedemann syndrome is symptomatic and supportive, often involving a team of specialists. Regular screening for tumors is recommended due to the increased risk of cancer.
See also
- Genetic disorder
- Chromosome 11
- Macroglossia
- Omphalocele
- Hypoglycemia
- Earlobe creases
- Visceromegaly
- Tumor
External links
- Medical encyclopedia article on Beckwith-Wiedemann syndrome
- Wikipedia's article - Beckwith-Wiedemann syndrome
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski