Toluene embryopathy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Toluene embryopathy | |
| fr | Embryopathie au toluène | Exposition anténatale au toluène |
| de | Toluol-Embryopathie | Toluol-Exposition, vorgeburtliche |
| es | Embriopatía por tolueno | |
| it | Embriopatia da toluene | |
| nl | Tolueen-embryopathie | |
| pt | Embriofetopatia por tolueno | Síndrome tolueno fetal |
| pl | Embriopatia toluenowa | Prenatalne zatrucie toluenem |
| cs | Toluenová embryopatie | |
| uk | Толуенова ембріопатія | |
| zh | 甲苯胚胎病 | |
| tr | Toluen embriyopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q86.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.0Y | NTBT | index | validated |
| MONDO | 0016016 | E | validated | |
| UMLS | C2931737 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:138059Teratogenic Pierre Robin syndrome
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:251529Toxic or drug-related embryofetopathy
rare developmental anomalies during embryogenesis; rare disorders due to toxic effects; rare teratologic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0004422 | Biparietal narrowing | |
| HP:0001263 | Global developmental delay | |
| HP:0001347 | Hyperreflexia | |
| HP:0001252 | Hypotonia | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000411 | Protruding ear | |
| HP:0004322 | Short stature | |
| HP:0001182 | Tapered finger | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0000126 | Hydronephrosis | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0003196 | Short nose | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000319 | Smooth philtrum | |
| Occasional (29-5%) | ||
| HP:0000486 | Strabismus | |
| HP:0000233 | Thin vermilion border | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1920
- This record as JSON: /data/d/1920.json