Thalidomide embryopathy
Synonyms: Fetal thalidomide syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Thalidomide embryopathy is a group of anomalies present in infants as a result of <i>in utero</i> exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma. Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thalidomide embryopathy | Fetal thalidomide syndrome |
| fr | Embryopathie à la thalidomide | Foetopathie à la thalidomide |
| de | Thalidomid-Embryopathie | |
| es | Embriopatía por talidomida | |
| it | Embriopatia da talidomide | |
| nl | Thalidomide-embryopathie | Foetaal thalidomidesyndroom |
| pt | Embriopatia por talidomida | |
| pl | Embriopatia spowodowana talomidem | Płodowy zespół talomidowy |
| cs | Thalidomidová embryopatie | Fetální thalidomidový syndrom |
| uk | Талідомідна ембріопатія | Талідомідний синдром плода |
| zh | 反应停胎儿病 | 胎儿反应停综合征 |
| tr | Talidomid embriyopatisi | fetal talidomid sendromu |
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 | 0018034 | E | validated | |
| UMLS | C0432365 | E | validated | |
| GARD | 2313 | E | validated | |
| MedDRA | 10071249 | 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:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone 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 | 1-9 / 1 000 000 | 0.77 / 100 000 | Worldwide | Value and class | 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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002991 | Abnormal fibula morphology | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| HP:0005613 | Aplasia/hypoplasia of the femur | |
| HP:0006507 | Aplasia/hypoplasia of the humerus | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0004059 | Radial club hand | |
| HP:0004322 | Short stature | |
| HP:0001171 | Split hand | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0009813 | Upper limb phocomelia | |
| Occasional (29-5%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0009892 | Anotia | |
| HP:0002257 | Chronic rhinitis | |
| HP:0000365 | Hearing impairment | |
| HP:0000855 | Insulin resistance | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3312
- This record as JSON: /data/d/3312.json