Fetal trimethadione syndrome
Encyclopedia
Fetal trimethadione syndrome (also known as paramethadione syndrome, German syndrome, tridione syndrome, among others) 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
.
Fetal trimethadione syndrome is classified as a rare disease
by the National Institute of Health's Office of Rare Diseases, meaning it affects less than 200,000 individuals in the United States
.
The fetal loss rate
while using trimethadione has been reported to be as high as 87%.
Trimethadione
Trimethadione is an oxazolidinedione anticonvulsant. It is most commonly used to treat epileptic conditions that are resistant to other treatments.-Fetal trimethadione syndrome:...
(also known as Tridione) or paramethadione
Paramethadione
Paramethadione is an anticonvulsant in the oxazolidinedione class. It is associated with fetal trimethadione syndrome, which is also known as paramethadione syndrome.-Chemistry:...
to epileptic mothers during pregnancy
Pregnancy
Pregnancy refers to the fertilization and development of one or more offspring, known as a fetus or embryo, in a woman's uterus. In a pregnancy, there can be multiple gestations, as in the case of twins or triplets...
.
Fetal trimethadione syndrome is classified as a rare disease
Rare disease
A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.Most rare diseases are genetic, and thus are present throughout the person's entire life, even if symptoms do not immediately appear...
by the National Institute of Health's Office of Rare Diseases, meaning it affects less than 200,000 individuals in the United States
United States
The United States of America is a federal constitutional republic comprising fifty states and a federal district...
.
The fetal loss rate
Miscarriage
Miscarriage or spontaneous abortion is the spontaneous end of a pregnancy at a stage where the embryo or fetus is incapable of surviving independently, generally defined in humans at prior to 20 weeks of gestation...
while using trimethadione has been reported to be as high as 87%.
Characteristics
Fetal trimethadione syndrome is characterized by the following major symptoms as a result of the teratogenic characteristics of trimethadione.- Cranial and facial abnormalities which include; microcephalyMicrocephalyMicrocephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
, midfacial flattening, V-shaped eyebrows and a short noseHuman noseThe visible part of the human nose is the protruding part of the face that bears the nostrils. The shape of the nose is determined by the ethmoid bone and the nasal septum, which consists mostly of cartilage and which separates the nostrils... - Cardiovascular abnormalities
- Absent kidneyKidneyThe kidneys, organs with several functions, serve essential regulatory roles in most animals, including vertebrates and some invertebrates. They are essential in the urinary system and also serve homeostatic functions such as the regulation of electrolytes, maintenance of acid–base balance, and...
and ureterUreterIn human anatomy, the ureters are muscular tubes that propel urine from the kidneys to the urinary bladder. In the adult, the ureters are usually long and ~3-4 mm in diameter.... - Meningocele, a birth defect of the spine
- OmphaloceleOmphaloceleAn omphalocele is a type of abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall.-Presentation:The sac, which is formed from an outpouching of...
, a birth defect where portions of the abdominal contents project into the umbilical cordUmbilical cordIn placental mammals, the umbilical cord is the connecting cord from the developing embryo or fetus to the placenta... - A delay in mental and physical developmentChild developmentChild development stages describe theoretical milestones of child development. Many stage models of development have been proposed, used as working concepts and in some cases asserted as nativist theories....