Fetal trimethadione syndrome
Appearance
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