The Beckwith-Wiedemann syndrome , also under the definition Wiedemann-Beckwith syndrome , Wiedemann syndrome and exomphalos-macroglossia-gigantism syndrome ( EMG Syndrome ), is a genetically conditional overgrowth syndrome , which with malformation and tumors and responsive to a Gene mutation is due.
In 1964, Hans-Rudolf Wiedemann reported for the first time on a familial form of an umbilical cord break ( omphalocele ) with an enlarged tongue ( macroglossia ) in Germany and differentiated it from other syndromes. In 1969 J. Bruce Beckwith described the same shape. Therefore, the syndrome that Wiedemann first called EMG syndrome is now called Beckwith-Wiedemann syndrome. It occurs at a frequency of 1 in 12,000 to 1 in 15,000. Today more than 500 case studies have been documented, 15% of which were family-related. A slightly increased frequency was observed with artificial insemination using ICSI ( Intracytoplasmic Sperm Injection ).
Other symptoms include malformations of the abdominal wall , such as umbilical hernias (umbilical hernias ) or umbilical cord breaks ( omphalocele ), as well as abnormal kidneys ( kidney cysts , multicystic kidney dysplasia or a so-called congestive kidney ( hydronephrosis )).
In the head area an unusually small skull trained (falls microcephaly ) on. Also characteristic are protruding eyes ( exophthalmos ), a midface hypoplasia and indentations on the dorsal helical edge of the ears ( notched ears ).
Embryonic tumors, especially Wilms tumors , are more likely to occur depending on the genetic causes. Other types of tumors that can occur include the hepatoblastoma and adrenal gland tumors (e.g. neuroblastoma ). According to current knowledge, this increased likelihood of the development of tumors only exists up to around the age of 8.
For this reason, children with Beckwith-Wiedemann syndrome up to the age of 8 should have their kidneys, adrenal glands, liver and the entire abdomen regularly examined using ultrasound and magnetic resonance imaging. Regular blood and urine tests are also advisable.
Ten out of 100 children have a paternal uniparental disomy (both chromosomes 11 are inherited from the father, none from the mother).
In up to 20 out of 100 children, the genetic cause cannot yet be clarified.
The two genes IGF2 and H19 are controlled by a common enhancer . Usually, the effect of the enhancer on IGF2 is blocked by an isolator on the maternal side, so that only H19 is maternally expressed. Both genes are expressed paternally (on the paternal side), as the isolator cannot work here due to the methylation of H19.
Through mutations may lead to increased methylation and unusual expression of the genes, leading to the emergence of Beckwith-Wiedemann syndrome.
- Lentze, Schaub, Schulte, Spranger and Heyne: Pediatrics: Basics and Practice. 2nd edition 2003, Springer-Verlag
- Alexander Strauss: Ultrasound Practice. 2nd edition, Springer, Berlin 2008, pp. 68-69, ISBN 978-3-540-78252-0
- Robert J Ferry Jr: Beckwith-Wiedemann Syndrome. Medscape
- A. Schinzel: Newly discovered structural chromosome aberrations in well-known syndromes, associations and sequences . In: Results of Internal Medicine and Paediatrics / Advances in Internal Medicine and Pediatrics Volume 57, 1988, pp. 57-75.
- Regine Witkowski , Otto Prokop , Eva Ullrich: Lexicon of Syndromes and Malformations: Causes, Genetics, Risks . Springer, Berlin 2003, ISBN 3-540-44305-3 .
- Kinderetzwerk eV: Information folder on Beckwith-Wiedemann syndrome
- Beckwith-Wiedemann syndrome in OMIM