Fetal trimethadione syndrome
Fetal trimethadione syndrome (also referred to as paramethadione syndrome, German syndrome, or tridione syndrome, as well as several other terms[1]) is a series 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] To be considered a rare disease, it must affect 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:[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
These symptoms result from the teratogenic characteristics of trimethadione.[7]
References
- ^ Additional names include trimethadione embryopathy and trimethadione syndrome.
- ^ Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes - Retrieved January 2007
- ^ Fetal trimethadione syndrome on the ORD website. Retrieved January 2007
- ^ Rare Diseases Retrieved January 2007
- ^ Teratology and Drug Use During Pregnancy Retrieved January 2007
- ^ Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes - Retrieved January 2007
- ^ The fetal trimethadione syndrome: report of an additional family and further delineation of this syndrome Retrieved January 2007