Toluene embryopathy

A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.



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Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(57.8%)		 9294310
 [Two cases of toluene embryopathy with severe motor and intellectual disabilities syndrome].
Arai H, Yamada M, Miyake S, Yamashita S, Iwamoto H, Aida N, Hara M.
No To Hattatsu. 1997;29(5):361-6.
Microcephaly Micrognathia
CYREN
Abnormalities, Drug-Induced Cerebral Palsy Child Craniofacial Abnormalities Females Homo sapiens Infant Intellectual Disability Male Microcephaly Motor Skills Disorders Pregnancy Prenatal Exposure Delayed Effects Substance-Related Disorders Syndrome
2
(39.0%)		 4039753
 Toluene embryopathy.
Hersh JH, Podruch PE, Rogers G, Weisskopf B.
J Pediatr. 1985;106(6):922-7.
Microcephaly
Abnormalities, Drug-Induced Child, Preschool Environmental Pollution Females Growth Disorders Homo sapiens Male Maternal-Fetal Exchange Microcephaly Pregnancy Syndrome
2
(39.0%)		 2471833
 Toluene embryopathy: two new cases.
Hersh JH.
J Med Genet. 1989;26(5):333-7.
Microcephaly
Abnormalities, Drug-Induced Adult Child, Preschool Developmental Disabilities Females Homo sapiens Infant, Newborn Microcephaly Pregnancy Prenatal Exposure Delayed Effects Substance-Related Disorders
        

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0001182 Tapered finger Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001347 Hyperreflexia Very frequent (99-80%)
HP:0002167 Neurological speech impairment Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004422 Biparietal narrowing Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000126 Hydronephrosis Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000319 Smooth philtrum Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0007477 Abnormal dermatoglyphics Frequent (79-30%)
HP:0010669 Hypoplasia of the zygomatic bone Frequent (79-30%)
HP:0012745 Short palpebral fissure Frequent (79-30%)
HP:0100542 Abnormal localization of kidney Frequent (79-30%)
HP:0000233 Thin vermilion border Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 3

HPO ID Term # of case reports
HP:0000252 Microcephaly 1
HP:0000752 Hyperactivity 1
HP:0001249 Intellectual disability 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID