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 | |
|---|---|
| Other names | German syndrome |
 | |
| Condition is caused by Trimethadione (and paramethadione) | |
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
editFetal 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
Diagnosis
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Treatment
editSurgery 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]
References
edit- ^ 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 Archived 2009-02-06 at the Wayback Machine 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
- ^ Brown, Robert T (2014). Encyclopedia of Special Education. Wiley Online. ISBN 9780470642160.