Fetal trimethadione syndrome explained

Synonyms:	German syndrome

Fetal trimethadione syndrome (also known as paramethadione syndrome, German syndrome, tridione syndrome, among others^[1]) is a set of birth defects caused by the administration of the anticonvulsants trimethadione (also known as Tridione) or paramethadione to epileptic mothers during pregnancy.^[2]

Fetal trimethadione syndrome is classified as a rare disease by the National Institute of Health's Office of Rare Diseases,^[3] meaning it affects less than 200,000 individuals in the United States.^[4]

The fetal loss rate while using trimethadione has been reported to be as high as 87%.^[5]

Presentation

Fetal trimethadione syndrome is characterized by the following major symptoms as a result of the teratogenic characteristics of trimethadione.^{[2] [6]}

• Cranial and facial abnormalities which include; microcephaly, midfacial flattening, V-shaped eyebrows and a short nose
• Cardiovascular abnormalities
• Absent kidney and ureter
• Meningocele, a birth defect of the spine
• Omphalocele, a birth defect where portions of the abdominal contents project into the umbilical cord
• A delay in mental and physical development

Treatment

Surgery may help alleviate the effects of some physical defects, but prognosis is poor, especially for those with severe cardiovascular and cognitive problems. Speech and physical therapy, as well as special education, is required for surviving children.^[7]

Notes and References

1. Additional names include trimethadione embryopathy and trimethadione syndrome.
2. https://www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=paramethadione+syndrome&field=name Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
3. http://rarediseases.info.nih.gov/asp/diseases/diseaseinfo.asp?ID=2462 Fetal trimethadione syndrome on the ORD website.
4. http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=2462 NIH's Office of Rare Diseases
5. http://www.emedicine.com/med/topic3242.htm Teratology and Drug Use During Pregnancy
6. http://archpedi.ama-assn.org/cgi/content/abstract/131/12/1389 The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome
7. Book: Brown, Robert T . Encyclopedia of Special Education . Wiley Online . 2014 . 9780470642160.