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 Anticonvulsants (also known as antiepileptic drugs or recently as antiseizure drugs) are a diverse group of pharmacological agents used in the treatment of epileptic seizures. Anticonvulsants are also increasingly being used in the treatment of b ...

trimethadione Trimethadione (Tridione) is an oxazolidinedione anticonvulsant. It is most commonly used to treat epileptic conditions that are resistant to other treatments. It is primarily effective in treating absence seizures, but can also be used in ref ...

(also known as Tridione) or

paramethadione Paramethadione (brand name Paradione) is an anticonvulsant in the oxazolidinedione class developed by the Illinois-based pharmaceutical company Abbott Laboratories (known as AbbVie since January 1, 2013 ), and approved by the Food and Drug Admin ...

to epileptic mothers during

pregnancy Pregnancy is the time during which one or more offspring develops ( gestates) inside a woman's uterus (womb). A multiple pregnancy involves more than one offspring, such as with twins. Pregnancy usually occurs by sexual intercourse, but ca ...

.Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
- Retrieved January 2007 Fetal trimethadione syndrome is classified as a rare disease by the

National Institute of Health The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late 1 ...

's Office of Rare Diseases, meaning it affects less than 200,000 individuals in the

United States The United States of America (U.S.A. or USA), commonly known as the United States (U.S. or US) or America, is a country primarily located in North America. It consists of 50 states, a federal district, five major unincorporated territorie ...

. The fetal loss rate while using trimethadione has been reported to be as high as 87%.

Presentation

Fetal trimethadione syndrome is characterized by the following major symptoms as a result of the

teratogenic Teratology is the study of abnormalities of physiological development in organisms during their life span. It is a sub-discipline in medical genetics which focuses on the classification of congenital abnormalities in dysmorphology. The related t ...

characteristics of trimethadione. *

Cranial Standard anatomical terms of location are used to unambiguously describe the anatomy of animals, including humans. The terms, typically derived from Latin or Greek roots, describe something in its standard anatomical position. This position pro ...

and facial abnormalities which include;

microcephaly Microcephaly (from New Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it ...

, midfacial flattening, V-shaped eyebrows and a short

nose A nose is a protuberance in vertebrates that houses the nostrils, or nares, which receive and expel air for respiration alongside the mouth. Behind the nose are the olfactory mucosa and the sinuses. Behind the nasal cavity, air next passes th ...

* Cardiovascular abnormalities * Absent

kidney The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; blood ...

and ureter * Meningocele, a birth defect of the spine *

Omphalocele Omphalocele or omphalocoele also called exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of ...

, a birth defect where portions of the

abdominal The abdomen (colloquially called the belly, tummy, midriff, tucky or stomach) is the part of the body between the thorax (chest) and pelvis, in humans and in other vertebrates. The abdomen is the front part of the abdominal segment of the torso. ...

contents project into the umbilical cord * A

delay Delay (from Latin: dilatio) may refer to: Arts, entertainment, and media * ''Delay 1968'', a 1981 album by German experimental rock band Can * ''The Delay'', a 2012 Uruguayan film People * B. H. DeLay (1891–1923), American aviator and acto ...

in mental and physical development

Diagnosis

Treatment

Surgery 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 Special education (known as special-needs education, aided education, exceptional education, alternative provision, exceptional student education, special ed., SDC, or SPED) is the practice of educating students in a way that accommodates th ...

, is required for surviving children.

References

External links

{{Medical resources , ICD10 = Q86.8 , ICD9 = , ICDO = , OMIM = , DiseasesDB = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , MeSH = C537798 , GeneReviewsNBK = , GeneReviewsName = , Orphanet = 1913 Rare syndromes Congenital disorders