Fetal trimethadione syndrome

A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000396 Overfolded helix Very frequent (99-80%)
HP:0000664 Synophrys Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0011039 Abnormality of the helix Very frequent (99-80%)
HP:0011220 Prominent forehead Very frequent (99-80%)
HP:0011800 Midface retrusion Very frequent (99-80%)
HP:0000047 Hypospadias Frequent (79-30%)
HP:0000062 Ambiguous genitalia Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0001629 Ventricular septal defect Frequent (79-30%)
HP:0001631 Atrial septal defect Frequent (79-30%)
HP:0001636 Tetralogy of Fallot Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)
HP:0001669 Transposition of the great arteries Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID