Fetal trimethadione 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]

Characteristics

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

References

^ Additional names include trimethadione embryopathy and trimethadione syndrome.
^ ^a ^b Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes - Retrieved January 2007
^ Fetal trimethadione syndrome on the ORD website. Retrieved January 2007
^ NIH's Office of Rare Diseases Retrieved January 2007
^ Teratology and Drug Use During Pregnancy Retrieved January 2007
^ The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome Retrieved January 2007